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Gene: Efemp2 MGI:1891209

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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:
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
Synonyms:
fibulin 4,  Fbln4,  0610011K11Rik,  fibulin-4,  MBP1

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 Efemp2 mutations

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

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

The table below shows human diseases associated to Efemp2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cutis Laxa, Autosomal Recessive, Type Ib
Arachnodactyly, Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Pulmonary artery... OMIM:614437
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai... ORPHA:90349

The table below shows human diseases predicted to be associated to Efemp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Coronary Artery Dissection, Spontaneous
Cystic medial necrosis, Coronary artery dissection OMIM:122455
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... ORPHA:229
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis OMIM:604091
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Cardiomyopathy, Dilated, 1B
Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra... OMIM:600884
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Lethal Congenital Contracture Syndrome 3
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... OMIM:611369
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Loeys-Dietz Syndrome 4
Torticollis, Arachnodactyly, Bicuspid aortic valve, Arterial tortuosity, Pneumothorax, Mitral val... OMIM:614816
Aneurysm Of Interventricular Septum
Vascular dilatation OMIM:105805
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Portal hypertension, Emphysema, Cerebral berry aneurysm OMIM:210050
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm ORPHA:261102
Aortic Aneurysm, Familial Thoracic 12
Bicuspid aortic valve, Spontaneous pneumothorax, Chronic pulmonary obstruction, Ascending tubular... OMIM:619825
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi... OMIM:601612
Fibromuscular Dysplasia, Arterial
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... OMIM:135580
Cap Myopathy
Facial palsy, Central hypoventilation, Abnormal muscle fiber morphology, Lower limb amyotrophy, M... ORPHA:171881
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Grange Syndrome
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Arterial stenosis ORPHA:79094
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Atrial septal defect, Sandal gap, Abnormal heart valve morphology, Long fingers, D... ORPHA:230851
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis, Redundant skin, Cutis laxa ORPHA:91135
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abdominal aortic aneurys... ORPHA:91387
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... OMIM:619910
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Carpal synostosis, Bowing of the long bones, Flared metaphysis, Advanced ossification of carpal b... OMIM:615349
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Soft, doughy skin, Carotid artery dissection, Arachnodactyly, Congenital... OMIM:208050
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Emphysema,... ORPHA:363618
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis OMIM:608320
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Prominent superficial veins, Redundant skin, Carotid artery stenosis, Bilateral pt... OMIM:618000
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
Telangiectasia, Hereditary Benign
Diffuse telangiectasia, Vascular dilatation OMIM:187260
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular sept... OMIM:617602
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Highly arched eyebrow, Bilateral ptosis, Widow's peak, Small hand, Ups... OMIM:145420
Arterial Tortuosity Syndrome
Respiratory distress, Redundant skin, Coxa vara, Hyperextensible skin, Clinodactyly of the 5th fi... ORPHA:3342
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility of the finger joints, Epicanthus, Mitral valve prolapse, Aortic root aneurysm,... OMIM:130000
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... ORPHA:60033
Takayasu Arteritis
Hypertensive crisis, Myocardial infarction, Vasculitis, Arterial stenosis, Ascending tubular aort... ORPHA:3287
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Boudin-Mortier Syndrome
Long toe, Mallet finger, Arachnodactyly, Long fingers, Pseudoepiphyses of the proximal phalanges ... OMIM:619543
Hypoalphalipoproteinemia, Primary, 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618463
Sitosterolemia 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618666
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis ORPHA:1192
Fetal Encasement Syndrome
Omphalocele, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:613630
Contractural Arachnodactyly, Congenital
Hip contracture, Bowing of the long bones, Arachnodactyly, Bicuspid aortic valve, Ventricular sep... OMIM:121050
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Respiratory insufficiency, Vascular dilatation ORPHA:2924
Meester-Loeys Syndrome
Aortic dissection, Arachnodactyly, Hypertrichosis, Mitral valve prolapse, Ascending tubular aorta... OMIM:300989
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Coarctati... OMIM:615779
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Coronary artery calcification, Myocardial infarction, Carotid arte... OMIM:208000
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Coarse hair, Atrial septal defect, Sparse hair, Patent foramen ovale, Highly arched eyebrow, Pate... OMIM:617506
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus totalis, Mitral valve pro... OMIM:609008
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Arachnodactyly, Ventricular septal defect, Aortic root aneurysm, Talipes equinovarus, Camptodacty... OMIM:301039
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Congenital diaphragmatic hernia, Ascending tubular aorta aneury... OMIM:219100
Neonatal Marfan Syndrome
Long toe, Neonatal respiratory distress, Arachnodactyly, Long fingers, Abnormal cardiac ventricle... ORPHA:284979
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... ORPHA:228116
Macs Syndrome
Alopecia, Dilation of Virchow-Robin spaces, Epicanthus, Redundant skin, Palpebral edema, Sparse e... OMIM:613075
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycardia, Varicose veins, Distic... OMIM:126320
Yuan-Harel-Lupski Syndrome
Epicanthus, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Upslanted palpebral fis... OMIM:616652
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Hyperextensible skin, Atria... OMIM:245600
Cutis Laxa, Autosomal Recessive, Type Ib
Arachnodactyly, Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Pulmonary artery... OMIM:614437
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Aortop... OMIM:620025
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis OMIM:610947
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Short toe, Widely spaced toes, Aortic root aneurysm, Narrow palpebral f... ORPHA:404443
Rin2 Syndrome
Sparse scalp hair, Redundant skin, Aortic aneurysm, Upper eyelid edema, Hyperextensible skin, Dow... ORPHA:217335
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Metaphyseal widening, Hyperextensible skin, Ar... ORPHA:536467
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Alopecia, Arachnodactyly, Redundant skin, Sandal gap, Equinus calcaneus, Phalangea... ORPHA:536532
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Koolen-De Vries Syndrome
Atrial septal defect, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Abnormality o... OMIM:610443
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnorm... ORPHA:1166
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Lacun... ORPHA:136
Aneurysm Of Sinus Of Valsalva
Dyspnea, Stroke, Bacterial endocarditis, Cough, Dilatation of the sinus of Valsalva ORPHA:1054
X Small Rings
Epicanthus, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Tapered finger, 2-3... ORPHA:96201
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... ORPHA:99094
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Sarcoidosis, Susceptibility To, 2
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... OMIM:612387
Familial Atrial Myxoma
Tricuspid regurgitation, Congestive heart failure, Heart murmur, Dilatation of the cerebral arter... ORPHA:615
Vascular Hyalinosis
Vascular dilatation, Premature graying of hair, Hematochezia, Subarachnoid hemorrhage OMIM:277175
Mass Syndrome
Arachnodactyly, Mitral valve prolapse, Ascending aortic dissection, Striae distensae, Aortic aneu... OMIM:604308
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Opitz Gbbb Syndrome
Enlarged ovaries, Telecanthus, Ventricular septal defect, Congenital diaphragmatic hernia, Trache... ORPHA:2745
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Premature coronary artery atherosclerosis OMIM:620058
Fixed Subaortic Stenosis
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Patent ductus... ORPHA:3092
Loeys-Dietz Syndrome 5
Atrial septal defect, Decreased muscle mass, Scapular winging, Arachnodactyly, Ventricular septal... OMIM:615582
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Atherosclerosis, Epistaxis, Cutis laxa OMIM:610842
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Loeys-Dietz Syndrome 1
Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Arterial tortuosity, Descending thor... OMIM:609192
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... ORPHA:860
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Congenital diaphragmatic hernia, Abnormal heart morphology, Cutis laxa, Emphysema OMIM:614100
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Arachnodactyly, Mitral valve prolapse, Ascending aortic dissection, Aor... OMIM:616166
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... OMIM:618780
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... OMIM:615745
Myasthenic Syndrome, Congenital, 18
Ptosis, Neonatal respiratory distress, Knee flexion contracture OMIM:616330
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Brittle hair, Flexion contracture, Generalized limb muscle atrophy, Fine ha... OMIM:618891
Myasthenic Syndrome, Congenital, 8
Weakness of facial musculature, Respiratory insufficiency, Ptosis OMIM:615120
Moyamoya Disease 1
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia OMIM:252350
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra... OMIM:614980
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypoplastic toenails, Synophrys, Aspiration pneumonia, Abnormal toenail morphology, Patent forame... ORPHA:444077
Scimitar Syndrome
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the di... ORPHA:185
Tricuspid Atresia
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... ORPHA:1209
Microphthalmia, Syndromic 12
Neonatal death, Congenital diaphragmatic hernia OMIM:615524
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Coarctation of aorta, Hypertension, Long eyelashes, Recurrent bronchiolitis OMIM:616069
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Arachnodactyly, Redundant skin, Congenital diaphragmatic hernia,... ORPHA:171719
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Sparse scalp hair, Skeletal muscle atrophy, Epicanthus, Arachnodactyly, Sparse eyelashe... ORPHA:75496
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Abnormal hand morphology, Patent ductus ar... ORPHA:228190
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
De Barsy Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Epicanthus, Ventricular septal defect,... ORPHA:2962
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction, Premature coronary artery atherosc... OMIM:615703
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Synophrys, Atrial septal defect, Patent foramen ovale, Recurrent aspiration pneumonia, Proportion... ORPHA:280633
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Z-band streaming, Coar... OMIM:619178
Immunodeficiency 23
Recurrent respiratory infections, Allergic rhinitis, Asthma, Erythema, Bronchiectasis, Aortic roo... OMIM:615816
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Descending aortic dissection, Bronchiectasis, Small thenar eminence, Ascending ... OMIM:620080
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Hyperextensibility of the finger joints, Thick eyebrow, Hepatomegaly, Thick... OMIM:135500
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Ogden Syndrome
Torticollis, Broad hallux, Ventricular septal defect, Pulmonary artery stenosis, Fine hair, Cutis... ORPHA:276432
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Long fingers, Mitral v... OMIM:616914
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Ptosis, Facial palsy, Respiratory insufficiency due to muscle weakness, Dil... OMIM:300580
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Weaver Syndrome
Deep-set nails, Finger syndactyly, Sandal gap, Redundant skin, Camptodactyly of finger, Abnormal ... ORPHA:3447
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Dyspnea, Bronchiectasis, Mitral regurgitation, Em... OMIM:123700
Rafiq Syndrome
Highly arched eyebrow, Long eyebrows, Sparse eyebrow, Flexion contracture, Cutis laxa, Clinodacty... OMIM:614202
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Emphysema, Small vessel vasculitis, Restrictive ventilatory defect, Cough, Pleural effus... ORPHA:36412
Hidrotic Ectodermal Dysplasia
Abnormal metacarpophalangeal joint morphology, Absent eyebrow, Alopecia, Hypopigmentation of hair... ORPHA:189
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Temtamy Syndrome
Brachydactyly, Telecanthus, Short toe, Genu varum, Clinodactyly of the 5th finger, Aortic aneurysm ORPHA:1777
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Left-to-right shunt, Congestive heart failure, Patent ductus ar... ORPHA:99050
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Skeletal muscle atrophy, Sparse eyelashes, Sparse eyebrow, Restrictive ve... OMIM:615704
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Cutis laxa, Alopecia of scalp, Sc... ORPHA:2269
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Hyperextensible sk... OMIM:619472
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced respiratory cilia... OMIM:618300
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Right ven... ORPHA:99095
Keutel Syndrome
Recurrent respiratory infections, Alopecia, Ventricular septal defect, Pulmonary artery stenosis,... ORPHA:85202
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short toe, Patent ductus arteriosus, Short... OMIM:604381
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai... ORPHA:90349
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation OMIM:226100
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Epicanthus, Sparse eyelashes, Rocker bottom foot, Tapered finger, Sparse eyebrow, Pericardial eff... OMIM:620070
Marfan Syndrome
Decreased muscle mass, Aortic dissection, Arachnodactyly, Bicuspid aortic valve, Equinus calcaneu... OMIM:154700
6P22 Microdeletion Syndrome
Finger syndactyly, Epicanthus, Redundant skin, Patent ductus arteriosus, Clinodactyly ORPHA:251046
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... ORPHA:391665
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Igg4-Related Aortitis
Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morphology, Ascending tubular aorta aneury... ORPHA:449400
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morp... ORPHA:53719
Menkes Disease
Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Cutis laxa, Intracranial hemorrh... OMIM:309400
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Abnormality... ORPHA:42775
Aorta Coarctation
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... ORPHA:1457
Progeroid Syndrome, Petty Type
Epicanthus, Brittle hair, Redundant skin, Abnormal hair morphology, Cutis laxa, Abnormality of th... ORPHA:2963
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Hutchinson-Gilford Progeria Syndrome
Alopecia, Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart fa... OMIM:176670
Immunodeficiency 49
Pulmonary artery stenosis, Hirsutism, Cutis laxa, Upslanted palpebral fissure, Short palpebral fi... OMIM:617237
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Preaxial hand polydactyly, Widow's peak, Knee flexio... OMIM:606242
Cranioectodermal Dysplasia 3
Telecanthus, Rhizomelia, Sandal gap, Postaxial polydactyly, Short nail, 2-4 toe syndactyly, 2-3 t... OMIM:614099
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... ORPHA:365
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Hyperextensible skin, Distal lower li... OMIM:619764
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Decreased muscle mass, Redundant neck skin, Redundant skin, Thick hair, Prominent veins on trunk,... ORPHA:357074
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Coronary artery atherosclerosis ORPHA:79084
Familial Thrombocytosis
Transient ischemic attack, Miscarriage, Peripheral arterial stenosis, Syncope, Cerebral ischemia,... ORPHA:71493
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Thanatophoric Dysplasia
Redundant skin, Micromelia, Patent ductus arteriosus, Respiratory insufficiency, Pulmonary hypopl... ORPHA:2655
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance, Ptosis OMIM:616304
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of finger, Arterial... ORPHA:284984
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Facial palsy, Increased variability in muscle fibe... OMIM:614399
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... ORPHA:758
Aortic Valve Disease 2
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... OMIM:614823
Myasthenic Syndrome, Congenital, 15
Multiple joint contractures, Ptosis OMIM:616227
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Aspiratio... ORPHA:141152
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Death in infancy, Morg... OMIM:613177
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Rocker bottom foot, Lower limb mu... ORPHA:1143
Dysbetalipoproteinemia
Accelerated atherosclerosis, Angina pectoris, Type IV atherosclerotic lesion, Tendon xanthomatosi... ORPHA:412
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Premature coronary artery atherosclerosis ORPHA:140905
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm, Mitral valve prolapse ORPHA:449291
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Telecanthus, Premature graying of hair, White forelock, Abnormality of ... ORPHA:895
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Atrial flutter, Transient ischemic attack, Angina pectoris, Pat... ORPHA:1330
Focal Facial Dermal Dysplasia Type Iii
Epicanthus, Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Abnormal hair pattern,... ORPHA:1807
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Cutis Laxa, Autosomal Recessive, Type Iid
Entropion, Hypoplastic right heart, Redundant skin, Blepharophimosis, Pneumothorax, Cutis laxa, A... OMIM:617403
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... OMIM:613854
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Au-Kline Syndrome
Ptosis, Overlapping toe, Postaxial polydactyly, Coxa valga, Supernumerary nipple, Lagophthalmos, ... OMIM:616580
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia, Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of... OMIM:600142
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Ventricular septal defect, Postaxial hand polydactyly, Pulmonary artery s... ORPHA:75389
Peroxisome Biogenesis Disorder 3A (Zellweger)
Vascular dilatation OMIM:614859
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Arachnodactyly, Thoracic aortic aneurysm, Var... OMIM:619656
Oliver-Mcfarlane Syndrome
Alopecia, Long eyebrows, Distal amyotrophy, Long eyelashes, Sparse hair OMIM:275400
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Ragged-red ... OMIM:613561
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... ORPHA:86812
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Congenital diaphragmatic hernia, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:1120
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Multiple pterygia, Abnormal eyelid morphology, Symphalangism affecting t... ORPHA:2990
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:300887
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Vasculitis, Bronchiectasis, Restrictive ventilatory ... ORPHA:1572
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Ehlers-Danlos Syndrome, Classic Type, 2
Epicanthus, Hyperextensible skin, Talipes equinovarus, Recurrent sinusitis, Soft, doughy skin, So... OMIM:130010
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Highly arched eyebrow, Genu varum, Cutis laxa, Long eyelashes, Clinodactyly of the 5t... OMIM:619451
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Metaphyseal widening, Flexion contracture, Abnormal finger morpholog... ORPHA:536471
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Flexion contracture, Elbow flexion contracture, Fine hair, Cutis lax... OMIM:614438
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Hepatomegaly, Respiratory distress, Ankle flexion contracture, Splenomegaly, Patent d... OMIM:608799
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Flynn-Aird Syndrome
Skeletal muscle atrophy, Alopecia, Skin ulcer, Atherosclerosis ORPHA:2047
Gastritis, Familial Giant Hypertrophic
Vascular dilatation OMIM:137280
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Shoulder flexion contracture, R... OMIM:619566
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, ... OMIM:620294
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Flexion contr... ORPHA:77260
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Premature graying of hair, Hypertension, Ischemic st... ORPHA:280679
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Ptosis OMIM:614750
Oculomotor-Levator Synkinesis
Ptosis, Eyelid retraction, Abnormal eyelid morphology OMIM:151610
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... ORPHA:238329
Li-Campeau Syndrome
Ptosis, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Patellar hypoplasia, Do... OMIM:619189
Phaver Syndrome
Broad hallux phalanx, Epicanthus, Ventricular septal defect, Camptodactyly of finger, Short thumb... ORPHA:2876
Noonan Syndrome 8
Curly hair, Atrial septal defect, Epicanthus, Ventricular septal defect, Patent ductus arteriosus... OMIM:615355
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Nicolaides-Baraitser Syndrome
Short palm, Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, ... ORPHA:3051
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Lipodystrophy, Familial Partial, Type 1
Hypertension, Prominent superficial veins, Coronary artery atherosclerosis OMIM:608600
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Sandal gap, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ov... ORPHA:477817
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:2516
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Alopecia totalis, Short finger, Tapered finger OMIM:302000
Meacham Syndrome
Death in infancy, Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Partial anomalous... OMIM:608978
Thanatophoric Dysplasia Type 2
Redundant skin, Micromelia, Patent ductus arteriosus, Respiratory insufficiency, Aplasia/Hypoplas... ORPHA:93274
Thumb Deformity And Alopecia
Short thumb, Alopecia OMIM:188150
Autosomal Dominant Cutis Laxa
Ptosis, Redundant neck skin, Redundant skin, Dilatation of the ventricular cavity, Adducted thumb... ORPHA:90348
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... ORPHA:2596
Cockayne Syndrome Type 3
Hepatomegaly, Dry hair, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Subdural hemo... ORPHA:90324
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased vari... OMIM:618654
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Increased number of skin folds, Redundant skin, Cutis laxa ORPHA:436274
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... OMIM:264800
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse, Dilatation of the cerebral artery, Aortic root aneurysm, Abnormal systemic... ORPHA:730
Perching Syndrome
Respiratory distress, Joint contracture, Camptodactyly OMIM:617055
Fanconi Renotubular Syndrome 5
Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma OMIM:618913
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Neonatal respiratory distress, Respiratory tract infection, Respiratory insufficiency, Arthrogryp... OMIM:616326
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia OMIM:619699
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Candidiasis, Familial, 1
Alopecia OMIM:114580
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm ORPHA:98892
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Prominent fingertip pads, Sparse hair, Deep-se... OMIM:277590
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Fingernail dysplasia, Triphala... ORPHA:2251
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Hypertension, Coronary artery atherosclerosis, Myocardial infarction OMIM:618620
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... OMIM:617577
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Noonan Syndrome 9
Curly hair, Ventricular septal defect, Sparse eyebrow, Coarctation of aorta, Pulmonic stenosis, D... OMIM:616559
Man1B1-Cdg
Epicanthus, Long eyebrows, Abnormal position of hair whorl, Sparse eyebrow, 2-3 toe syndactyly, C... ORPHA:397941
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Short metatarsal, Tibial bowing, Femoral bowing, Atrial septal defect, Short m... OMIM:304120
L-Ferritin Deficiency
Alopecia OMIM:615604
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Tachypnea, Hypertension, Death in childhood, Pulmonary arterial hypertension, V... OMIM:613320
Tangier Disease
Myocardial infarction, Facial diplegia, Distal amyotrophy, Nail dystrophy, Left ventricular hyper... OMIM:205400
Congenital Contractural Arachnodactyly
Arachnodactyly, Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Congenital c... ORPHA:115
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Redundant neck skin, Abnormal number of hair whorls, Mitral atresi... OMIM:618164
Macrocephaly/Autism Syndrome
Hepatomegaly, Epicanthus, Dilation of Virchow-Robin spaces, Splenomegaly, Cutis laxa, Coarse hair OMIM:605309
Marfan Syndrome
Skeletal muscle atrophy, Spontaneous pneumothorax, Congestive heart failure, Descending aortic di... ORPHA:558
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Miscarriage, Hypertension, Pulmonary artery hypo... OMIM:245150
Giant Cell Arteritis
Alopecia, Pericarditis, Epistaxis, Abnormal pleura morphology, Cough, Recurrent pharyngitis, Vasc... ORPHA:397
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vascular dilatation OMIM:617219
Temtamy Syndrome
Brachydactyly, Highly arched eyebrow, Short 2nd toe, Talipes equinovarus, Downslanted palpebral f... OMIM:218340
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Alopecia, Short hallux, Aplasia/Hypoplasia of the phalanges of the hallux, Respira... ORPHA:337
Fragile X Syndrome
Ascending tubular aorta aneurysm, Sinusitis, Mitral valve prolapse ORPHA:908
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... ORPHA:2637
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Bohring-Opitz Syndrome
Syndactyly, Neonatal respiratory distress, Epicanthus, Overlapping toe, Thick hair, Supernumerary... OMIM:605039
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Oculopharyngeal Muscular Dystrophy 1
Ptosis, Limb muscle weakness, Facial palsy, Progressive ptosis OMIM:164300
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Nonproductive cough, Abnormal EKG, Patent ductus arteriosus,... ORPHA:980
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Epicanthus, Ventricular septal defect, Low anterio... OMIM:612946
Noonan Syndrome 10
Curly hair, Atrial septal defect, Epicanthus, Ventricular septal defect, Sparse eyebrow, Patent d... OMIM:616564
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Char Syndrome
Distal/middle symphalangism of 5th finger, Highly arched eyebrow, Patent ductus arteriosus, Clino... OMIM:169100
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ragged-re... ORPHA:254864
Transaldolase Deficiency
Telangiectasia, Abnormal respiratory system physiology, Coarctation of aorta ORPHA:101028
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis OMIM:614432
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Epicanthus, Patent ductus arteriosus, Aortic rupture, Cutis laxa, Myopat... OMIM:614557
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr... ORPHA:97339
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Cutaneous s... ORPHA:2890
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Epicanthus, Telecanthus, Redundant skin, Abnormal eyelash morphology, Low post... ORPHA:1252
Kerion Celsi
Alopecia ORPHA:499
Anauxetic Dysplasia 3
Sparse scalp hair, Short metacarpal, Broad eyebrow, Recurrent respiratory infections, High anteri... OMIM:618853
Rahman Syndrome
Telecanthus, Redundant skin, Talipes equinovarus, Camptodactyly, High anterior hairline OMIM:617537
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Ptosis, Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respir... OMIM:608423
Costello Syndrome
Deep-set nails, Epicanthus, Abnormal fingernail morphology, Redundant skin, Ventricular septal de... ORPHA:3071
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux, Highly arched eyebrow, Ve... OMIM:600987
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Split hand, Flexion contracture, Sparse body hair, Aplasia/Hypoplasi... ORPHA:2850
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Camptodactyly of finger, Facial erythema, Nail dystrophy, Nail dysplasia, Dry skin OMIM:212360
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia, Redundant skin OMIM:615721
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Redundant skin, Micromelia, Patent ductus arteriosus, Spli... ORPHA:1860
Congenital Myopathy With Myasthenic-Like Onset
Recurrent respiratory infections, Scapular winging, Multiple joint contractures, Respiratory insu... ORPHA:424107
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Osteogenesis Imperfecta
Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Femoral bo... ORPHA:666
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Netherton Syndrome
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal h... ORPHA:634
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Facial palsy, Flexion contracture, Hammertoe, Distal amyotrophy, Ulnar claw,... OMIM:607684
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Metaphyseal widening, Synophrys, Low anterior hairline, Flexion contracture... OMIM:617303
Classical Ehlers-Danlos Syndrome
Epicanthus, Arterial dissection, Phalangeal dislocation, Dermatochalasis, Mitral valve prolapse, ... ORPHA:287
Arthrogryposis, Distal, Type 7
Metatarsus adductus, Cutaneous syndactyly of toes, Hammertoe, Distal arthrogryposis, Talipes equi... OMIM:158300
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Recurrent respiratory infections, Sparse eyebrow, Fine hair, Ciliary... ORPHA:1882
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Alopecia, Epicanthus, Osteolysis involving bones of the upper limbs, Flexion contract... ORPHA:88630
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Microphthalmia, Syndromic 9
Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctation of aorta,... OMIM:601186
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation OMIM:617056
Cranioectodermal Dysplasia 4
Epicanthus, Recurrent pneumonia, Decreased nasal nitric oxide, Cutis laxa, Cutaneous finger synda... OMIM:614378
Apolipoprotein A-I Deficiency
Angina pectoris, Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:425
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, Decreased muscle mass, Congestive heart failure, Recurrent pneumonia, Elbow... ORPHA:1900
Noonan Syndrome 2
Curly hair, Atrial septal defect, Abnormal coronary artery origin, Mitral stenosis, Ventricular s... OMIM:605275
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Abnormal eyelid morphology, Splenomegaly, Erythema, Skin ulcer, Dry skin,... ORPHA:2584
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Epicanthus, Redundant skin ORPHA:1779
C Syndrome
Hepatomegaly, Short metacarpal, Toe syndactyly, Ventricular septal defect, Epicanthus, Micromelia... OMIM:211750
Recombinant 8 Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Redundant skin, Abnorma... ORPHA:96167
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Exertio... ORPHA:3093
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia, Telecanthus, Flexion contracture, Cutaneous finger syndactyly, Short middle phalanx of ... OMIM:203550
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Rhizomelia, Flexion contracture, Flared metaphysis, Respiratory insufficiency, Upslante... OMIM:215100
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Mitral valve prolapse, Cut... OMIM:314400
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Aplasia of the left hemidiaphragm, Tetralogy of Fallot, Congenital diap... ORPHA:2847
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Ptosis, Cerebral hemorrhage, Abnormal hand morphology, Dilated cardiomyopathy, Small hand, Abnorm... OMIM:300845
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Epicanthus, Toe syndactyly, Overlapping toe, Rocker bottom foot... OMIM:601808
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Epicanthus, Overriding aorta, Ventricular septal defect, Telecanthus, Hypoplastic toenails, Paten... OMIM:601927
Cantu Syndrome
Epicanthus, Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Curly eyelashes, Cardi... OMIM:239850
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Facial palsy, Absent eyelashes, Preaxial hand polydactyly, Hand polydac... ORPHA:2316
Grange Syndrome
Coronary artery stenosis, Renovascular hypertension, Renal artery stenosis, Carotid artery stenosis OMIM:602531
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax... ORPHA:538
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Synophrys, Abnormal lung lobation, Atrial septal defect, Clinodactyly of t... OMIM:607872
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Apnea, Cardiomegaly, Secundum atrial ... OMIM:300855
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Postaxial polydactyly, Vascular ring, Knee fl... OMIM:603387
2p15-16.1 microdeletion syndrome
Telecanthus, Downslanted palpebral fissures, Camptodactyly of finger, Ptosis DECIPHER:70
Scarf Syndrome
Epicanthus, Diastasis recti, Low posterior hairline, Cutis laxa, Hypoplastic nipples, Sparse hair... ORPHA:3134
20Q13.33 Microdeletion Syndrome
Hallux valgus, Epicanthus, Dilation of Virchow-Robin spaces, Facial hypotonia, Highly arched eyeb... ORPHA:261311
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Abnormal hair morphology, Atelectasis, Cough, Dystrophic finger... ORPHA:2314
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Coarctation of aorta OMIM:620210
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla... OMIM:613573
Cutis Laxa, Autosomal Recessive, Type Iiia
Cutis laxa, Distal amyotrophy, Hyperextensible skin, Talipes equinovarus, Sparse hair, Adducted t... OMIM:219150
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Alopecia, Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenom... OMIM:615559
Intellectual Developmental Disorder, Autosomal Dominant 21
Epicanthus, Patent ductus arteriosus, Coarctation of aorta, Long eyelashes, Atrial septal defect OMIM:615502
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis OMIM:209010
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Apnea, Ascending aorta hypoplasia, Synophrys, Flexion co... OMIM:619503
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Transient ischemic attack, Angina pectoris, Tel... ORPHA:324
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
Erythrokeratodermia Variabilis
Alopecia, Tapered finger, Abnormal hair morphology, Erythema, Abnormality of the nail, Dry skin, ... ORPHA:317
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Cardiofaciocutaneous Syndrome
Brittle hair, Redundant skin, Hyperextensible skin, Atrial septal defect, Sparse hair, Dystrophic... ORPHA:1340
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, 2-3 toe syndactyly, Horizontal eyebrow, Clinodactyly, Ptosis OMIM:619311
Ethanolaminosis
Cardiomegaly OMIM:227150
Visceral Myopathy, Familial, With External Ophthalmoplegia
Vascular dilatation OMIM:277320
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis, Cutis laxa OMIM:105120
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Upslanted palpebral fissure, Epicanthus, Ptosis OMIM:620086
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Unilateral ptosis, Overriding aorta, Patent ductus arteriosus, 2-3 toe syndactyly, Clubbing of to... ORPHA:3304
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Respiratory distress, Pulmonary edema, Transient ischemic ... OMIM:115197
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Polydactyly, Bronchiolitis OMIM:615993
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Epicanthus, Redundant neck skin, Ventricular septal defect, Supernumerary n... ORPHA:2519
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Prominent superficial veins, Decreased muscle mass, Redundant skin, Lac... OMIM:612940
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Left atrial enlargeme... OMIM:614008
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Alopecia, Hypoplastic fingernail, Abnormal pulmonary valve morp... ORPHA:974
Agel Amyloidosis
Facial palsy, Respiratory tract infection, Bilateral ptosis, Cutis laxa, Cardiomyopathy, Keratoco... ORPHA:85448
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... OMIM:620067
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Epicanthus, Telecanthus, Redundant skin, Spontaneous neonatal pneumothorax, Short toe, Blepharoch... OMIM:225410
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Dyspnea, Increased muscle lipid content, Abnormality of the calf musculature, Lo... ORPHA:565612
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Premature graying of hair, Nail dystrophy, Pulmonary fibrosis, Emphysema OMIM:620365
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... OMIM:609040
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Redundant neck skin, Ptosis, Tel... OMIM:217980
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Neonatal respiratory distress, Abnormal atrial arrangement, Respiratory t... ORPHA:244
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Atrial septal defect, Respiratory distress, Sparse eyelashes, Sand... OMIM:612863
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Redundant skin, Hypoplasia of the abdominal wall musculature, Synophrys, L... OMIM:612289
Cranioectodermal Dysplasia 2
Unilateral ptosis, Atrial septal defect, Sparse hair, Patent foramen ovale, Syndactyly, Hepatomeg... OMIM:613610
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... OMIM:219200
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz... ORPHA:79083
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Aortic Arch Interruption
Respiratory distress, Tachypnea, Aortopulmonary window, Absent pulse, Tricuspid regurgitation, Pa... ORPHA:2299
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Flexion contracture, Abnormal aortic arch morphology, Tibial bowing, Atrial ... ORPHA:96334
Hypercholesterolemia, Familial, 1
Tendon xanthomatosis, Coronary artery atherosclerosis OMIM:143890
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes ORPHA:3363
Childhood-Onset Nemaline Myopathy
Scapular winging, Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Flexi... ORPHA:171439
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Transposi... OMIM:313850
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Precocious atherosclerosis, Mitral valve prolapse, Hyperextensible skin,... ORPHA:230839
Waardenburg Syndrome Type 3
Telecanthus, Camptodactyly of finger, Tracheomalacia, Blepharophimosis, Atelectasis, White hair, ... ORPHA:896
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Ptosis, Alopecia, Hypopigmentation of hair, Abnormal heart morphology ORPHA:1067
Aldh18A1-Related De Barsy Syndrome
Hyperextensible skin ORPHA:35664
Tetrasomy 15Q26
Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly, Atrial septal d... OMIM:614846
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... OMIM:613327
Cutis Laxa, Autosomal Dominant 3
Dermal translucency, Tortuous cerebral arteries, Cutis laxa, Talipes equinovarus, Premature skin ... OMIM:616603
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect, Sparse lateral eyebrow OMIM:617616
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Cutis laxa OMIM:301045
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Synophrys, Broad n... OMIM:300280
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... ORPHA:2348
Spastic Ataxia 1, Autosomal Dominant
Ptosis, Leg muscle stiffness OMIM:108600
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Arachnodactyly, Ventricular septal defect, Flexion contr... OMIM:309520
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus ... OMIM:619657
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Flexion contracture, Low anterior hairline, Clinodactyly of the 5th finger, Highly arc... OMIM:619293
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Frontonasal Dysplasia 1
Ptosis, Epicanthus, Postaxial hand polydactyly, Widow's peak, Pectoral muscle hypoplasia/aplasia,... OMIM:136760
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Short humerus, Hepatomegaly, Short femur, Skeletal muscle atrophy, Apnea, R... ORPHA:17
Oculopharyngodistal Myopathy 2
Ptosis, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Wea... OMIM:618940
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Respiratory insufficiency due... OMIM:301830
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation, Downslanted palpeb... ORPHA:1110
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Myopathy ORPHA:26792
Elastosis Perforans Serpiginosa
Cutis laxa ORPHA:79148
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At... ORPHA:392
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Lateral Meningocele Syndrome
Ptosis, Decreased muscle mass, Telecanthus, Ventricular septal defect, Bicuspid aortic valve, Pat... OMIM:130720
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin OMIM:301021
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Reduced vital capacity, Orthopnea, Ptosis, Facial palsy, Triceps weaknes... ORPHA:98913
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Abnormal aortic morpho... ORPHA:1926
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Hypoplastic toenails, Dextrotransposition of the great arteri... OMIM:306955
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Centrally nucleated skeletal m... OMIM:619733
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Ptosis, Epicanthus, Dilation of Virchow-Robin spaces, Highly arche... OMIM:301069
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal ao... ORPHA:251071
Juvenile Dermatomyositis
Calcinosis, Alopecia, Pericarditis, Myositis, Palpebral edema, Dyspnea, Vasculitis, Erythema, Ski... ORPHA:93672
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Cardiac Diverticulum
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Pulmonary artery stenosis, Pa... ORPHA:1686
Scarf Syndrome
Epicanthus, Diastasis recti, Low anterior hairline, Low posterior hairline, Cutis laxa, Hypoplast... OMIM:312830
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Proximal muscle weakness in lower limbs, Distal lower limb ... ORPHA:171706
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Limb muscle weakness, Re... OMIM:603034
Sézary Syndrome
Hepatomegaly, Alopecia, Skeletal muscle atrophy, Abnormal pleura morphology, Splenomegaly, Nail d... ORPHA:3162
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Epicanthus, Overlapping toe... OMIM:619383
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia, Vascular dilatation ORPHA:221098
Myasthenic Syndrome, Congenital, 10
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Proximal amyotrophy, Di... OMIM:254300
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation OMIM:618343
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... ORPHA:284169
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Rocker bottom foot, Respiratory insufficiency due to muscle weakness, Fa... OMIM:611890
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Hypertrichosis Cubiti
Rhizomelia, Abnormal nasolacrimal system morphology, Micromelia, Abnormal eyelid morphology, Abno... ORPHA:2220
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir... ORPHA:98915
Lymphedema-Hypoparathyroidism Syndrome
Ptosis, Brachydactyly, Telecanthus, Pulmonary lymphangiectasia, Mitral valve prolapse, Restrictiv... OMIM:247410
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Ptosis, Facial palsy, Flexion contracture, Knee flexion contracture, Myo... OMIM:616313
Congenital Disorder Of Glycosylation, Type Iq
Dry skin, Hypertrichosis, Cutis laxa OMIM:612379
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Limb-girdle muscle weakness, Congenital ptosis, Myopathy, Exertional... ORPHA:352470
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... OMIM:263000
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Dyspnea, Hypovolemia, Peripheral arterial stenosis, Eleva... ORPHA:90041
Gapo Syndrome
Prominent scalp veins, Alopecia, Hepatomegaly, Sparse eyelashes, Redundant skin, Facial palsy, Ep... OMIM:230740
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Increased variability in ... OMIM:617022
Gastrocutaneous Syndrome
Synophrys, Coronary artery atherosclerosis ORPHA:2069
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Neurooculocardiogenitourinary Syndrome
Epicanthus, Redundant neck skin, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosu... OMIM:618652
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Epicanthus, Split hand, Congenital fibrosis of e... OMIM:157900
Double Outlet Right Ventricle
Tachycardia, Tachypnea, Double outlet right ventricle, Heart murmur, Coarctation of aorta, Pulmon... ORPHA:3426
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:610978
Periodontal Ehlers-Danlos Syndrome
Hyperextensible skin ORPHA:75392
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Alopecia, Chronic pulmonary obstruction, Pyoderma gangrenosum... OMIM:616576
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Epicanthus, Broad hallux, Sandal gap, Micromelia, Cutis laxa, Fine hair, Thick eyebro... OMIM:614800
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Highly arched eyebrow, Synophrys, Patent ductus arteriosus, Low anterior h... OMIM:615009
Autoimmune Hypoparathyroidism
Prolonged QT interval, Dyspnea, Abnormal left ventricular function, Coronary artery atheroscleros... ORPHA:36913
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Venous insufficiency, Aplasia/Hypoplasia o... ORPHA:565
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... OMIM:175050
Bathing Suit Ichthyosis
Alopecia, Autoamputation of digits, Multiple joint contractures, Palmoplantar scaling skin, Nail ... ORPHA:100976
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... OMIM:617468
Proteus Syndrome
Splenomegaly, Limbal dermoid, Downslanted palpebral fissures, Venous malformation, Ptosis OMIM:176920
Whistling Face Syndrome, Recessive Form
Epicanthus, Telecanthus, Shoulder flexion contracture, Elbow flexion contracture, Knee flexion co... OMIM:277720
Rhizomelic Chondrodysplasia Punctata
Alopecia, Epicanthus, Rhizomelia, Limb undergrowth, Abnormal metaphysis morphology, Dry skin, Spa... ORPHA:177
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Farber Disease
Respiratory distress, Skeletal muscle atrophy, CNS foam cells, Nodular pattern on pulmonary HRCT,... ORPHA:333
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... OMIM:610913
Coffin-Siris Syndrome 8
Sparse scalp hair, Hypertrichosis, Long eyelashes, Thick eyebrow, Ptosis OMIM:618362
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hyperextensible skin OMIM:615937
Coffin-Siris Syndrome 3
Macroglossia, Umbilical hernia, Inguinal hernia, Central diaphragmatic hernia OMIM:614608
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Tapered toe, Sparse eyelashes, Dilation of Virchow-R... ORPHA:544488
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Hepatomegaly, Redundant neck skin, Rhizomelia, Recurrent respiratory infec... ORPHA:1842
Shprintzen-Goldberg Craniosynostosis Syndrome
Ptosis, Telecanthus, Arachnodactyly, Metatarsus adductus, Metaphyseal widening, Genu valgum, Aort... OMIM:182212
Meacham Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Conotruncal defect, Anomalous pulmonar... ORPHA:3097
22Q11.2 Duplication Syndrome
Epicanthus, Ventricular septal defect, Hypoplastic left heart, Transposition of the great arterie... ORPHA:1727
Cornelia De Lange Syndrome 2
Ptosis, Thick eyebrow, Proximal placement of thumb, Highly arched eyebrow, Synophrys, Small hand,... OMIM:300590
Ventriculomegaly With Defects Of The Radius And Kidney
Vascular dilatation OMIM:602200
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Ventricular septal defect, Absent eyel... ORPHA:166035
Gapo Syndrome
Alopecia, Sparse eyelashes, Palpebral edema, Abnormal cerebral vascular morphology, Sparse eyebro... ORPHA:2067
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculatu... OMIM:617069
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis OMIM:144010
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Foot joint contracture, Tapered finger, Sparse eyebrow, Fine hair, Mit... ORPHA:444072
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Mogs-Cdg
Respiratory distress, Hepatomegaly, Alopecia, Hypoventilation, Left ventricular hypertrophy, Apne... ORPHA:79330
Alg3-Cdg
Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Coarctation of the descending aortic... ORPHA:79321
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscl... OMIM:620278
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia OMIM:300978
Ehlers-Danlos Syndrome, Periodontal Type, 2
Prominent superficial veins, Hyperextensible skin OMIM:617174
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Epicanthus, Abnormal thumb morp... ORPHA:3242
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Ptosis, Dyspnea, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle... OMIM:615156
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Epicanthus, Excessive skin wrinkling o... ORPHA:2834
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia, Respiratory distress OMIM:616733
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Odontochondrodysplasia
Respiratory distress, Bowing of the long bones, Micromelia, Coxa valga, Patent ductus arteriosus,... ORPHA:166272
Encephalocraniocutaneous Lipomatosis
Alopecia, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash m... ORPHA:2396
Hypomelanosis Of Ito
Syndactyly, Alopecia, Epicanthus, Hand polydactyly, Radial deviation of finger, Clinodactyly OMIM:300337
Fetal Trimethadione Syndrome
Epicanthus, Ventricular septal defect, Synophrys, Transposition of the great arteries, Atrial sep... ORPHA:1913
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Campt... ORPHA:261330
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Lcat Deficiency
Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:650
Monosomy 18Q
Epicanthus, Arachnodactyly, Absence of the pulmonary valve, Tapered finger, Secundum atrial septa... ORPHA:1600
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Emanuel Syndrome
Torticollis, Inguinal hernia, Truncus arteriosus, Congenital diaphragmatic hernia, Patent ductus ... OMIM:609029
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Sparse scalp hair, Highly arched eyebrow, Su... ORPHA:1001
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Weak... OMIM:608930
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Recurrent respiratory infections, Ptosis, Facial palsy, Centrally nuclea... OMIM:255320
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Anomalous pulmonary ve... ORPHA:2311
Lowry-Maclean Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:2409
Dermoodontodysplasia
Sparse scalp hair, Abnormal eyelid morphology, Fingernail dysplasia, Trichodysplasia, Dry skin, T... ORPHA:1660
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... OMIM:619632
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Tapered finger, Hypoplastic toenails, Spl... ORPHA:2930
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy, Ptosis OMIM:609283
Ring Chromosome 1 Syndrome
Telecanthus, Abnormal hair pattern, Clinodactyly of the 5th finger, Downslanted palpebral fissure... ORPHA:1437
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Carpenter Syndrome 2
Ectropion of lower eyelids, Preaxial polydactyly, Low anterior hairline, Coxa vara, Knee flexion ... OMIM:614976
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Epicanthus, Telecanthus, Thick hair, Pate... ORPHA:505248
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Epicanthus, Abnormal heart valve morphology, Short hallu... ORPHA:1517
Encephalocraniocutaneous Lipomatosis
Alopecia, Ventricular septal defect, Limbal dermoid, Eyelid coloboma, Subvalvular aortic stenosis... OMIM:613001
Kawasaki Disease
Abnormality of nail color, Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent ... ORPHA:2331
Alg12-Cdg
Recurrent respiratory infections, Epicanthus, Sandal gap, Redundant skin, Proximal placement of t... ORPHA:79324
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Type 1... ORPHA:98905
Microcephaly 16, Primary, Autosomal Recessive
Knee flexion contracture, Ptosis, Telecanthus, Adducted thumb OMIM:616681
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Systemic Sclerosis
Alopecia, Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, M... ORPHA:90291
Congenital Tracheal Stenosis
Respiratory distress, Ventricular septal defect, Ascending aorta hypoplasia, Neonatal asphyxia, P... ORPHA:141127
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicanthus, Palpebral edema, Absen... OMIM:137940
Relapsing Polychondritis
Abnormal endocardium morphology, Alopecia, Pericarditis, Myocarditis, Dyspnea, Erythema, Atelecta... ORPHA:728
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Arachnodactyly, Rocker bottom foot, Flexion contract... OMIM:271225
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Scapular winging, Myocardial infarction, Aplasia/Hypoplasia of the abdominal... ORPHA:500
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Ptosis, Telecanthus, Apnea, Recurrent pneumonia, Abnormal ... ORPHA:314655
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Alg8-Cdg
Cutis laxa, Macroglossia, Talipes equinovarus, Camptodactyly, Premature skin wrinkling, Brachydac... ORPHA:79325
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly, Epicanthus OMIM:614741
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Cardiomyopathy, Stroke ORPHA:79312
Lysinuric Protein Intolerance
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Intraalveolar phospholipid accumulation, Res... OMIM:222700
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ... OMIM:255310
Trichorhinophalangeal Syndrome, Type Ii
Bicuspid aortic valve, Cerebral arteriovenous malformation, Sparse hair, Clinodactyly of the 5th ... OMIM:150230
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal hair morphology, Flexion contracture, Lack of skin elasticity, Premature graying of hair... ORPHA:1979
Cooper-Jabs Syndrome
Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Restrictive Dermopathy
Atrial septal defect, Telecanthus, Multiple joint contractures, Entropion, Camptodactyly of finge... ORPHA:1662
Infantile Sialic Acid Storage Disease
Hepatomegaly, Epicanthus, Cardiomegaly, Splenomegaly, Fair hair, Metaphyseal irregularity, Ptosis OMIM:269920
Rajab Interstitial Lung Disease With Brain Calcifications 1
Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insuffici... OMIM:613658
Myasthenic Syndrome, Congenital, 23, Presynaptic
Calf muscle hypertrophy, Ptosis OMIM:618197
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Conjunct... OMIM:612843
Autosomal Recessive Robinow Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Clinodactyly of the 5th finger, Synost... ORPHA:1507
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormal toe morphology, Alopecia, Abnormal finger morphology, Coarctation of aorta OMIM:163200
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Cutaneo... OMIM:601005
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Patent ductus arteriosus, Telangiectasia of the skin, Arterial stenosis ORPHA:1556
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Hepatomegaly, Patent duc... OMIM:602782
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Epicanthus, Sparse eyelashes, Telecanthus, Ventricular septal hypertr... OMIM:615280
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short metacarpal, Prominent superficial veins, Camptodactyly of finger, Tapered finger, Flat capi... OMIM:612350
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er... OMIM:104100
Loeys-Dietz Syndrome
Cardiac arrest, Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Aortic di... ORPHA:60030
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia ORPHA:346
Barber-Say Syndrome
Ablepharon, Telecanthus, Redundant skin, Sparse or absent eyelashes, Hyperextensible skin, Breast... ORPHA:1231
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... OMIM:608931
Arthrogryposis, Distal, Type 5
Ptosis, Decreased muscle mass, Epicanthus, Arachnodactyly, Reduced forced expiratory volume in on... OMIM:108145
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Bowing of the long bones, Camptodactyly OMIM:619751
Zaki Syndrome
Sparse scalp hair, Toe syndactyly, Congenital diaphragmatic hernia, Hypoplastic toenails, Long fi... OMIM:619648
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Red... ORPHA:192
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Tapered finger, Abnormal heart morphology,... ORPHA:1867
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Telecanthus, Redundant neck skin, Ventricular septal defect, Rocker bottom foot, Co... OMIM:301056
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Cardio... OMIM:256550
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Facial diplegia, Nail dystrophy, Left ventr... ORPHA:31150
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring... OMIM:211530
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventricular block, Int... OMIM:259900
Vascular Ehlers-Danlos Syndrome
Redundant skin, Alopecia, Peripheral arteriovenous fistula, Abnormal eyelash morphology, Respirat... ORPHA:286
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Heart murmur, Coarctation of aorta, Hypertension, Asc... ORPHA:402075
Glycogen Storage Disease Ii
Hepatomegaly, Recurrent respiratory infections, Subarachnoid hemorrhage, Cardiomegaly, Respirator... OMIM:232300
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Carotid artery tortuosity, Soft skin, Vertebral artery tortuosity, Pu... OMIM:619329
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Respiratory distress OMIM:616974
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Hypoplastic toenails, Myofiber disarray, Myopathy, Increased ... OMIM:604377
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency, Knee flexion contracture, Distal arthrogryposis, Talipes equino... OMIM:618198
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Macroglossia, Flared elbow metaphyses, Limb undergrowth ORPHA:1423
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Achilles tendon contracture, Congenita... ORPHA:363528
Gabriele-De Vries Syndrome
Hallux valgus, Telecanthus, Sandal gap, Aortopulmonary collateral arteries, Facial hypotonia, Spa... OMIM:617557
Terminal Osseous Dysplasia
Syndactyly, Ptosis, Multiple joint contractures, Epicanthus, Camptodactyly of finger, Telecanthus... OMIM:300244
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Intellectual Developmental Disorder, Autosomal Dominant 26
Epicanthus, Highly arched eyebrow, Upslanted palpebral fissure, Downslanted palpebral fissures, C... OMIM:615834
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Trisomy 1Q
Omphalocele, Patent ductus arteriosus, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Arthrogryposis, Distal, Type 2B3
Hallux valgus, Ptosis, Ulnar deviation of the hand, Talipes equinovarus, Camptodactyly, Overlappi... OMIM:618436
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Weiss-Kruszka Syndrome
Ptosis, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Prox... OMIM:618619
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Fibrinolytic Defect
Hyperextensible skin OMIM:134900
Senior-Loken Syndrome 8
Vascular dilatation OMIM:616307
Alport Syndrome
Dyspnea, Renal glomerular foam cells, Stridor, Abnormal aortic morphology, Cough, Recurrent bronc... ORPHA:63
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Geroderma Osteodysplasticum
Hyperextensibility of the finger joints, Neonatal wrinkled skin of hands and feet, Femoral bowing... OMIM:231070
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis ORPHA:2997
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, I... OMIM:601462
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... ORPHA:2306
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str... ORPHA:142
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Joubert Syndrome 36
Mesoaxial hand polydactyly, Highly arched eyebrow, Ptosis OMIM:618763
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Cardiomegaly, Nodular pattern on pulmonary HRCT, Dyspnea, Diffuse alveola... ORPHA:99931
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Short thumb, Patent ductus arteriosus, 2-3 toe syndactyly, Genu valgum, Mi... ORPHA:2712
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Thick eyebrow, Scapular winging, Sandal gap, Ventricular septal defect, Pto... OMIM:617061
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis ORPHA:209902
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Epicanthus, Arachnodactyly, Bicuspid aortic valve, Cerebral hemorrhage, ... ORPHA:536545
Arthrogryposis Multiplex Congenita 6
Death in infancy, Death in childhood, Neonatal death, Increased variability in muscle fiber diame... OMIM:619334
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Prominent scalp veins, Lacrimal duct stenosi... OMIM:151050
Pagod Syndrome
Omphalocele, Death in infancy, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Abno... ORPHA:991
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Patent ductus arteriosus, Tachypnea, Coarctation of aorta OMIM:614857
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Patent ductus arteriosus, Erythema, Clubbing, Osteolytic defects of the phalanges... OMIM:259100
Kury-Isidor Syndrome
Finger syndactyly, Alopecia, Ptosis, Ventricular septal defect, Rocker bottom foot, Proximal plac... OMIM:619762
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Abnormal fingernail morphology, Yellow nails, Dyspne... ORPHA:662
Alkaptonuria
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Thickened ... OMIM:203500
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ascending tubular ao... ORPHA:453499
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Emanuel Syndrome
Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia, Patent ductus arte... ORPHA:96170
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Alopecia, Brittle hair, Epicanthus, Upslanted palpebral fissure ORPHA:50812
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Absent eyebrow, Epicanthus, Telecanthus, Arachnodactyly, Dyspnea, Upslanted... ORPHA:2707
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Respiratory distress, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
15Q24 Microdeletion Syndrome
Hernia, Congenital diaphragmatic hernia ORPHA:94065
Coach Syndrome 1
Portal hypertension, Hypertension, Vascular dilatation OMIM:216360
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Dilation of Virchow-Robin spaces, Sparse eyelashes, Blepharoph... OMIM:619075
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Chylopericardium... ORPHA:2414
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Ptosis, Alopecia, Hyperconvex fingernails, Myopathy, Skin vesicle, Hypoplastic fingernail ORPHA:257
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Ptosis OMIM:617070
Distal Triplication 15Q
Telecanthus, Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contractu... ORPHA:314588
Chondrodysplasia, Blomstrand Type
Micromelia, Flared metaphysis, Advanced ossification of carpal bones, Advanced tarsal ossificatio... OMIM:215045
Right Atrial Isomerism
Aortopulmonary collateral arteries, Abnormal lung lobation, Total anomalous pulmonary venous retu... OMIM:208530
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Ptosis OMIM:614669
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Reduced muscle carnit... OMIM:212140
Oculopharyngodistal Myopathy 3
Ptosis, Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diamet... OMIM:619473
Coffin-Siris Syndrome 5
Sparse scalp hair, Thick eyebrow, Ptosis, Sandal gap, Arachnodactyly, Hypoplastic toenails, Low a... OMIM:616938
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Abnormal atrioventricular conduction, Precocious atherosclerosis, Su... ORPHA:280365
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... OMIM:620321
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Ptosis ORPHA:270
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Respiratory failure, Ptosis OMIM:618637
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus... ORPHA:555874
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Cardiomegaly, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Car... ORPHA:158687
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Pulmonary hypoplasia... OMIM:614096
Mixed Connective Tissue Disease
Hepatomegaly, Alopecia, Pericarditis, Myositis, Splenomegaly, Myocarditis, Dyspnea, Abnormal pulm... ORPHA:809
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Ectropion OMIM:242300
Cutis Laxa, Autosomal Recessive, Type Iic
Atrial septal defect, Prominent superficial veins, Entropion, Overlapping toe, Blepharophimosis, ... OMIM:617402
Fryns Syndrome
Omphalocele, Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Abnormal aortic mo... ORPHA:2059
Distal Deletion 15Q
Bicuspid aortic valve, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Abnormal ao... ORPHA:1596
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Blepharophimosis, Flexion contracture, Recurrent upper respiratory tract infections, Abnormal hea... ORPHA:391372
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Synophrys, Asthm... OMIM:606003
Nasolacrimal Duct Cyst
Intercostal retractions, Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dac... ORPHA:141083
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contracture, Hyper... ORPHA:157965
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Ventricular septal defect, Absent eyela... OMIM:106260
Meier-Gorlin Syndrome 4
Emphysema, Breast hypoplasia OMIM:613804
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation OMIM:219730
Trichorhinophalangeal Syndrome Type 2
Sparse scalp hair, Redundant skin, Avascular necrosis of the capital femoral epiphysis, Cone-shap... ORPHA:502
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Increased variability in musc... OMIM:611705
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Abnormal heart valve morphology, Redundant skin, Tapered finger, Pneumotho... ORPHA:2953
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Weakness of facial musculature, Respiratory insufficiency, Ptosis OMIM:616324
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Alstrom Syndrome
Hepatomegaly, Alopecia, Asthma, Dilated cardiomyopathy, Recurrent pneumonia, Atherosclerosis OMIM:203800
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Jansen-De Vries Syndrome
Central diaphragmatic hernia OMIM:617450
Mosaic Trisomy 1
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,... ORPHA:1692
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Ventricular septal defect, Bronchitis, La... ORPHA:1199
X-Linked Mandibulofacial Dysostosis
Epicanthus, Pulmonic stenosis, Abnormal mitral valve morphology, Abnormality of the pulmonary art... ORPHA:1131
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Absent eyelashes, Pleural effusion,... ORPHA:69735
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Alopecia, Recurrent pneumonia, Bronchiectasis, Pulmonic stenosi... OMIM:618282
Myopathy, Myofibrillar, 8
Scapular winging, Reduced vital capacity, Centrally nucleated skeletal muscle fibers, Achilles te... OMIM:617258
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl... ORPHA:486815
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Clinodactyly OMIM:300934
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Claw hand deformity, Ptosis OMIM:605285
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Epicanthus, Arachnodactyly, Dyspnea, Resp... ORPHA:2759
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Epicanthus, Rhizomelia, Ventricular septal defect, Blepharophimosis, Abnorm... OMIM:614114
Combined Oxidative Phosphorylation Deficiency 2
Patent ductus arteriosus, Redundant neck skin, Brachydactyly OMIM:610498
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Congenital contracture, Neonatal respiratory distress OMIM:615042
Sifrim-Hitz-Weiss Syndrome
Epicanthus, Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Coarctation of a... OMIM:617159
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Scapular winging, Hip contracture, Tapered toe, Shoulder flex... OMIM:620369
Buratti-Harel Syndrome
Atrial septal defect, Epicanthus, Dilation of Virchow-Robin spaces, Broad hallux, Recurrent pneum... OMIM:619314
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Osteolysis involving ... ORPHA:371428
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Alopecia totalis, Pericardial effusion, Hypertrophic cardiomyopathy, P... OMIM:618775
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Epidermal Nevus Syndrome
Weakness of long finger extensor muscles, Rhabdomyosarcoma, Aortic aneurysm ORPHA:35125
Sclerosteosis
Finger syndactyly, Facial palsy, 2-3 finger syndactyly, Curved distal phalanges of the hand, Fing... ORPHA:3152
Seckel Syndrome 9
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia OMIM:616777
Rubinstein-Taybi Syndrome 1
Respiratory distress, Flexion contracture, Low anterior hairline, Aortic isthmus hypoplasia, Clin... OMIM:180849
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rhabdomyolysis, ... ORPHA:454836
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis ORPHA:126
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
H Syndrome
Hallux valgus, Abnormal eyebrow morphology, Alopecia, Recurrent pharyngitis, Bronchiectasis, Hepa... ORPHA:168569
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Epicanthus, Short femur, Rhizomelia, Sandal gap, Patent duct... OMIM:607143
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Dyspnea, Ragged-red muscle fibers, Dilated cardiomyopathy, Respiratory insufficienc... OMIM:615084
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Epicanthus, Redundant neck skin, Overlapp... ORPHA:3309
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Alopecia, Ulnar deviation of the hand, Limb joint contracture OMIM:612079
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Coronary artery stenosis, Stroke, Myocardial infarction OMIM:615812
Omenn Syndrome
Hepatomegaly, Alopecia, Pneumonia, Splenomegaly, Short toe, Abnormal metaphysis morphology, Dry s... ORPHA:39041
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Epicanthus, Tapered finger, Almond-shaped palpebral fissure, Synophrys, Recurrent upper respirato... ORPHA:589905
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Myasthenic Syndrome, Congenital, 12
Ptosis, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Congenital diaphragmatic hernia OMIM:611812
Thakker-Donnai Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Congenital diaphragmatic hernia ORPHA:1780
Trisomy 17P
Skeletal muscle atrophy, Tapered finger, Patent ductus arteriosus, Flexion contracture, Low poste... ORPHA:261290
Coffin-Siris Syndrome 2
Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Sandal gap, Ptosis, Low anterior hairl... OMIM:614607
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Respiratory insuffici... OMIM:255200
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Heart Defects, Congenital, And Other Congenital Anomalies
Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery sten... OMIM:600001
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Epicanthus, Congenital diaphragmatic hernia, Sparse eyebrow, Low posterior ... OMIM:606164
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Flexion contracture, Ankyloblepharon, Pterygium, Patent foramen ovale,... OMIM:263650
Congenital Myopathy 19
Skeletal muscle atrophy, Facial hypotonia, Respiratory insufficiency due to muscle weakness, Resp... OMIM:618578
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dyspnea, Dilated cardiomyopathy, Rhabdomyo... OMIM:614921
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Telecanthus, Dextrocardia, Supernumerary nipple, Synophrys, Coarctation of aorta, Low posterior h... OMIM:618929
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Synophrys, Long eyelashes, Pulmonary arterial hypertension OMIM:619064
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Tapered finger, Respiratory tract infection, Long fingers, Flexion contr... OMIM:218000
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Death in childhood, Umbili... OMIM:618651
Keratoderma Hereditarium Mutilans
Alopecia, Autoamputation of digits, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2063
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Postaxial polydactyly, Tapered finger, Pa... OMIM:300968
Satoyoshi Syndrome
Short metacarpal, Alopecia, Short metatarsal, Osteolytic defects of the phalanges of the hand, Ge... OMIM:600705
11Q22.2Q22.3 Microdeletion Syndrome
Ptosis, Epicanthus, Small hand, Short foot, Clinodactyly of the 5th finger, Thick eyebrow, Brachy... ORPHA:444002
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Syndactyly, Cardiomegaly OMIM:613576
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... ORPHA:90068
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Epicanthus, Postaxial polydactyly, Splenomegaly, Patent ductu... OMIM:617088
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Alopecia ORPHA:100025
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Right atrial isomerism, Bilateral trilobed lung, Ventricular septal defect,... OMIM:270100
Ramos-Arroyo Syndrome
Respiratory distress, Sparse scalp hair, Dacryocystitis, Patent ductus arteriosus, Nasolacrimal d... ORPHA:1051
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Absent pulmonary artery, Coarctation of aorta, Death in childhood, Tetr... OMIM:600460
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Narrow palpebral fissure, Absent distal phalanges, Short middle ... OMIM:614219
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Larsen Syndrome
Short metacarpal, Ventricular septal defect, Short nail, Spatulate thumbs, Tracheomalacia, Access... OMIM:150250
Donnai-Barrow Syndrome
Omphalocele, Diaphragmatic eventration, Umbilical hernia, Congenital diaphragmatic hernia OMIM:222448
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Fazio-Londe Disease
Ptosis, Facial diplegia, Progressive inspiratory stridor OMIM:211500
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Facial palsy, Respiratory insufficiency, Ptosis OMIM:616322
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respiratory insufficiency, Ptosis OMIM:615917
Shashi-Pena Syndrome
Ptosis, Short metacarpal, Dilation of Virchow-Robin spaces, Epicanthus, Highly arched eyebrow, Sy... OMIM:617190
Kabuki Syndrome 2
Atrial septal defect, Epicanthus, Highly arched eyebrow, Coarctation of aorta, Short 5th finger, ... OMIM:300867
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Rhizomelia, Redundant skin, Tibial bowing, Femoral bowing, R... OMIM:616482
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... ORPHA:71273
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Alopecia, Toe syndactyly, Recurrent respiratory infections, Highly arched eyeb... ORPHA:3253
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Patent ductus arter... OMIM:619351
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Hypoplastic toenails, Ulnar deviation of finger, Short distal phalanx of... ORPHA:2013
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Woolly hair, Dilated cardiomyopathy, Clubbing of fing... OMIM:605676
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Pericar... ORPHA:79126
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Abnormal hair whorl, Finger clino... ORPHA:79474
Oculocerebrocutaneous Syndrome
Alopecia, Orbital cyst, Eyelid coloboma OMIM:164180
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnormal pleura morphology, Dyspnea, ... ORPHA:2357
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Fanconi Anemia, Complementation Group B
Death in infancy, Patent ductus arteriosus, Abnormal lung lobation, Coarctation of aorta OMIM:300514
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of finger, Broad metacarpals, Hep... OMIM:266920
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Dry skin, Low posterior hairline, Premature graying of hair, Alopecia of ... ORPHA:2617
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Stroke ORPHA:927
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Aspirati... ORPHA:70588
Mgat2-Cdg
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphol... ORPHA:79329
Chromosome 5Q12 Deletion Syndrome
Long toe, Epicanthus, Ventricular septal defect, Long fingers, Patent ductus arteriosus, Macroglo... OMIM:615668
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Neonatal respiratory distress, Epicanthus, Ventricular septal defect, Telec... OMIM:244450
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Facial palsy, Ptosis OMIM:617732
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Cardiomyopathy, Pleural effusion OMIM:235200
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Respiratory insufficiency, Ptosis OMIM:616325
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Micromelia, Bowing of the legs, Quadriceps muscle weakness, Metaphyseal ... OMIM:255800
Succinic Acidemia
Respiratory distress OMIM:600335
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... ORPHA:353327
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Mitral valve prolapse, Fine hair, Sparse hair, Ptosis OMIM:615278
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Flexion contracture, Long eyelashes, Camptodactyly, Emphy... OMIM:224690
Adult Syndrome
Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse scalp hair, Breast hypoplasia,... ORPHA:978
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Myopathy, Ectropion OMIM:275630
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Dilated card... ORPHA:352447
Sitosterolemia 1
Coronary artery atherosclerosis, Carotid artery stenosis OMIM:210250
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Pulmonary arterial hypertension, Stroke-like episode OMIM:619272
Pentalogy Of Cantrell
Omphalocele, Tetralogy of Fallot, Congenital diaphragmatic hernia ORPHA:1335
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Bi... ORPHA:329224
Holocarboxylase Synthetase Deficiency
Respiratory distress, Alopecia, Tachypnea, Keratoconjunctivitis ORPHA:79242
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Barber-Say Syndrome
Brachydactyly, Absent nipple, Sparse eyelashes, Redundant skin, Telecanthus, Ectropion, Sparse ey... OMIM:209885
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Redundant neck skin, Cardiomyopathy, Pulmonary hypoplasia, Pulmona... OMIM:619003
Hemifacial Atrophy, Progressive
Blepharophimosis, Patchy alopecia, Horner syndrome, Poliosis OMIM:141300
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Oculopharyngodistal Myopathy 1
Respiratory distress, Ptosis, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vita... OMIM:164310
Q Fever
Respiratory distress, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pneumonia, Abn... ORPHA:781
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Epicanthus, Telecanthus, Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aort... OMIM:617260
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Ven... ORPHA:46627
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea, Facial palsy, Proximal placement of thumb, Congenital foot ... OMIM:314580
Sarcoidosis, Susceptibility To, 1
Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restri... OMIM:181000
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Recurrent upper respiratory tract infections, Peripheral arterial stenos... ORPHA:217085
Myasthenic Syndrome, Congenital, 16
Bilateral ptosis, Apnea, Ptosis OMIM:614198
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Partial anomalous pulmonary venous return, Right aortic arch, Interrupted aorti... OMIM:617478
Werner Syndrome
Sparse scalp hair, Skeletal muscle atrophy, Rocker bottom foot, Abnormal cerebral vascular morpho... ORPHA:902
Autosomal Dominant Spastic Ataxia Type 1
Abnormal eyelid morphology, Ptosis, Generalized amyotrophy, Leg muscle stiffness ORPHA:251282
Occipital Horn Syndrome
Short humerus, Redundant skin, Coxa valga, Capitate-hamate fusion, Genu valgum, Coarse hair, Hype... OMIM:304150
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheomalacia, Sparse anterior scalp... ORPHA:96121
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Prominent superficial veins, Flexion contracture, Osteolytic defects of t... OMIM:608612
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydac... OMIM:617102
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Recurrent upper respiratory tract infections... OMIM:252920
Cornelia De Lange Syndrome 5
Telecanthus, Toe syndactyly, Proximal placement of thumb, Highly arched eyebrow, Synophrys, Small... OMIM:300882
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Synophrys, Clinodactyly of the 5th finger, Prominent fingertip pads, Atria... OMIM:612474
Aicardi-Goutières Syndrome
Ptosis, Myositis, Multiple joint contractures, Cardiomegaly, Calcification of the aorta, Hepatosp... ORPHA:51
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Hepatomegaly, Dilated cardiomyopathy, Flexion cont... ORPHA:367
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Ptosis, Epicanthus, Broad hallux, Facial hypotonia, Tapered finger, Long fingers, ... OMIM:618659
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Respiratory insufficiency due ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Respiratory insufficiency due ... ORPHA:98853
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Epicanthus, Redundant neck skin, Ventricular septal defect, Telecanthus, Highly arche... OMIM:617360
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Alopecia, Short hallux, Metaphyseal widening, Respiratory insufficiency, Abnormali... OMIM:135100
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Apnea, Ptosis OMIM:617235
Ablepharon Macrostomia Syndrome
Absent eyebrow, Ablepharon, Toe syndactyly, Camptodactyly of finger, Redundant skin, Abnormal hai... ORPHA:920
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Premature graying of hair, White forelock, Vascular dilatation OMIM:611584
Rapp-Hodgkin Syndrome
Syndactyly, Ptosis, Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supern... OMIM:129400
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Hyperextensible skin, Myopathy ORPHA:300179
Osteogenesis Imperfecta, Type I
Aortic aneurysm, Mitral valve prolapse, Finger joint hypermobility, Femoral bowing OMIM:166200
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Camptodactyly of finger, Ventr... ORPHA:2008
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Recurrent upper respiratory tract infections, Peripheral arterial stenos... ORPHA:217093
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia,... ORPHA:2092
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Skin ulcer, Onycholysis, Pterygium ORPHA:525
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ptosis, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Postaxial polydac... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ptosis, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Postaxial polydac... ORPHA:352665
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia, Ectropion OMIM:242510
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Atrial septal defect, Promi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Atrial septal defect, Promi... ORPHA:363958
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Ptosis, Sudden episodic apnea, Intermittent episodes of respira... ORPHA:98914
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Ptosis, Sudden episodic apnea, Intermittent episodes of respira... ORPHA:590
White-Sutton Syndrome
Patent ductus arteriosus, Facial hypotonia, Congenital diaphragmatic hernia OMIM:616364
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Recurrent pneumonia, Cor pulmonale, Keratoconjunctivitis, Coarse hair, Nail ... OMIM:158310
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctat... OMIM:618454
Nocardiosis
Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Em... ORPHA:31204
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
X-Linked Agammaglobulinemia
Alopecia, Sinusitis, Abnormal lung morphology, Recurrent pneumonia, Skin ulcer, Conjunctivitis ORPHA:47
Adams-Oliver Syndrome 1
Alopecia, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple,... OMIM:100300
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... ORPHA:2255
Aarskog-Scott Syndrome
Finger syndactyly, Epicanthus, Camptodactyly of finger, Small hand, Short foot, Hyperextensible s... ORPHA:915
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia,... OMIM:230900
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Tapered finger, Flexion contracture, Nail dysplasia, Finger joint hypermobi... ORPHA:544503
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Inguinal hernia, Congenital diaphragmatic hernia OMIM:614294
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Stroke, Left ventricular hypert... ORPHA:85451
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Respiratory insufficiency, Ptosis OMIM:616321
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:268249
Malaria
Respiratory distress ORPHA:673
Noonan Syndrome 11
Atrial septal defect, Pulmonic stenosis, Palmoplantar cutis laxa, Hypertrophic cardiomyopathy, Do... OMIM:618499
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Restrictive ventilato... ORPHA:663
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl... OMIM:617300
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia ORPHA:1834
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch, Hand clenching, Limb... OMIM:616920
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy... ORPHA:308552
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Hypermobile Ehlers-Danlos Syndrome
Epicanthus, Arterial dissection, Apnea, Venous insufficiency, Aplasia/Hypoplasia of the abdominal... ORPHA:285
Oculocerebrocutaneous Syndrome
Finger syndactyly, Alopecia, Ptosis, Abnormal fingernail morphology, Congenital diaphragmatic her... ORPHA:1647
Neuropathy, Congenital Hypomyelinating, 3
Ptosis, Epicanthus, Limb joint contracture, Flexion contracture, 2-3 toe syndactyly, Respiratory ... OMIM:618186
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... OMIM:265380
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Respiratory insufficiency due ... ORPHA:98863
Williams-Beuren Syndrome
Bicuspid aortic valve, Flexion contracture, Premature graying of hair, Atrial septal defect, Clin... OMIM:194050
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Paronychia, Eryth... ORPHA:37
Nicolaides-Baraitser Syndrome
Dry hair, Short metatarsal, Low anterior hairline, Prominent interphalangeal joints, Sparse hair,... OMIM:601358
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Short toe, Shortening of all d... OMIM:301900
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Hypoplastic fingernail, Ptosis, Ventricular septal defect, Epicanthus, Hypo... OMIM:220500
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Neonatal death, Congenital diaphragmatic hernia OMIM:194080
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Ptosis OMIM:616154
Tularemia
Respiratory distress, Pneumonia, Conjunctivitis, Cough, Pleural effusion, Conjunctival hyperemia ORPHA:3392
Wrinkly Skin Syndrome
Scapular winging, Epicanthus, Redundant skin, Short nail, Hypoplasia of the musculature, Muscular... OMIM:278250
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Epicanthus, Ventricular septal defect, Low anterior hairline, Abnormal heart morpholo... ORPHA:369891
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Bilateral ptosis, ... OMIM:620351
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Alopecia, Fine hair, Pulmonary fibrosis, Sparse hair ORPHA:1839
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Alopecia totalis, Absent thumb, Hypoplastic toenails, Aplasia/... ORPHA:1234
Velocardiofacial Syndrome
Ventricular septal defect, Blepharophimosis, Narrow palpebral fissure, Interrupted aortic arch, U... OMIM:192430
Typical Nemaline Myopathy
Ptosis, Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in ... ORPHA:171436
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Telecanthus, Short femur, Fractured radius, Ventricular septal defect, Decreased fibular diameter... OMIM:616897
Monosomy 18P
Epicanthus, Alopecia, Brachydactyly, Low posterior hairline, Ptosis ORPHA:1598
Arthrogryposis, Distal, Type 1A
Hip contracture, Ptosis, Overlapping toe, Rocker bottom foot, Calcaneovalgus deformity, Adducted ... OMIM:108120
Mucopolysaccharidosis Type 2
Recurrent upper respiratory tract infections, Peripheral arterial stenosis, Upper airway obstruct... ORPHA:580
Distal Duplication 6P
Abnormal hair quantity, Abnormal eyelash morphology, Abnormal lung lobation, Fine hair, Blepharop... ORPHA:1745
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Hooded eyelid, Proximal placement of thumb, Synophrys, Low anterior hairli... OMIM:610759
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Epicanthus, Brachydactyly, Synophrys, Clinodactyly of the 5th finger, Downslanted palpebral fissu... ORPHA:1390
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:210122
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Rocker bottom foot,... ORPHA:163979
Estrogen Resistance Syndrome
Coronary artery atherosclerosis, Breast hypoplasia, Abnormality of the pubic hair ORPHA:785
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Unilateral lung agenesis, Transient ischemic attack, Sparse eyebrow, Patent ductus ar... ORPHA:500150
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Ptosis ORPHA:438178
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Petechiae, Coxa valga, Cardiomegaly, Splenomegaly... OMIM:230000
Kleefstra Syndrome
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Supernumerary... ORPHA:261494
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Palpebral edema, Upper airway obstruction ORPHA:100057
Baraitser-Winter Syndrome 1
Epicanthus, Bicuspid aortic valve, Highly arched eyebrow, Patent ductus arteriosus, Duplication o... OMIM:243310
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Ptosis ORPHA:1875
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Thin nail, Abnormal hair morphology, Short toe, Erythema, Short finger, Small nail, Ect... OMIM:242100
Macular Degeneration, Age-Related, 3
Distal amyotrophy, Hyperextensible skin OMIM:608895
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Patent ductus arteriosus, Knee flexion contracture, Pulmonic stenosis, C... ORPHA:435638
Noonan Syndrome 5
Curly hair, Epicanthus, Sparse eyebrow, Fine hair, Small nail, Pulmonic stenosis, Atrial septal d... OMIM:611553
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Epicanthus, Sparse eyebrow, Sparse hair, Downslanted palpebral fissures, Ptosis OMIM:619989
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy, Lack of skin elasticity ORPHA:1366
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Aspiration, Dry skin OMIM:610768
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Hepatomegaly, Neonatal respiratory distress, Tapered toe, Apnea, Tapered finger, Hypopl... OMIM:608836
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Myopathy, Arte... ORPHA:109
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Ptosis, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Fac... OMIM:619424
Specific Granule Deficiency 2
Sandal gap, Recurrent pneumonia, Fragile nails, Hyperextensible skin, Nail dysplasia, Hirsutism, ... OMIM:617475
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Dyspnea, Patent ductus arteriosus, Bilateral ptosis, Mitral valve prolapse... ORPHA:555877
Sarcoidosis
Alopecia, Abnormal cardiac ventricular function, Facial palsy, Abnormal pleura morphology, Portal... ORPHA:797
Epidermolysis Bullosa, Junctional 1A, Intermediate
Nail dystrophy, Patchy alopecia, Camptodactyly of finger, Fragile nails OMIM:226650
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Interrupted aortic arch, Congenital diaphragmatic h... OMIM:267000
Noonan Syndrome 13
Ptosis, Epicanthus, Overlapping toe, Highly arched eyebrow, Tapered finger, Metatarsus adductus, ... OMIM:619087
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail... OMIM:305100
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Telecanthus, Epicanthus, Sparse eyebrow, Thick eyebrow, Ptosis OMIM:617268
Blau Syndrome
Pericarditis, Camptodactyly of finger, Facial palsy, Splenomegaly, Dyspnea, Erythema, Large vesse... ORPHA:90340
Prieto Syndrome
Epicanthus, Coxa valga, Talipes equinovarus, Radial deviation of finger, Clinodactyly, Ptosis OMIM:309610
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Short metacarpal, Brachydactyly, Micromel... OMIM:184260
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Arterial calcification, Coronary artery calcification, Cardiomegaly OMIM:614473
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M... ORPHA:254886
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Low posterior hairline, Cardiomyopathy, Myopathy, Nemaline bodies, Ptosis OMIM:616549
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Splenomegaly, Asthma, Recurrent pneumonia, Skin ulcer, Low po... OMIM:170100
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency,... OMIM:614299
Oculopharyngodistal Myopathy 4
Ptosis, Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscl... OMIM:619790
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia ORPHA:63260
Warburg Micro Syndrome 1
Facial hypertrichosis, Ptosis, Overlapping toe, Hypertrichosis OMIM:600118
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology, Abnormal cerebral vascular morphology ORPHA:3453
Legius Syndrome
Epicanthus, Supravalvar pulmonary stenosis, Low posterior hairline, Downslanted palpebral fissure... OMIM:611431
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle weakness, Bilatera... OMIM:258450
Intellectual Developmental Disorder, Autosomal Dominant 23
Sandal gap, Postaxial polydactyly, Synophrys, Low anterior hairline, Upslanted palpebral fissure,... OMIM:615761
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Overlapping toe, Highly arched eyebrow, EMG: myopathic abnormalities, Downslanted palpebral fissu... ORPHA:457365
Maternal Phenylketonuria
Epicanthus, Ventricular septal defect, Bifid distal phalanx of the thumb, Bilateral ptosis, Doubl... ORPHA:2209
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Low anterior hairline, Cont... ORPHA:329178
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Bilateral ptosis, Downslan... OMIM:619542
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Exertional ... ORPHA:42
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness of facial... OMIM:265000
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Epicanthus, Coxa valga, Finger clinodactyly, Bilateral talipes equinovarus, Ptosis ORPHA:2958
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Diastrophic Dysplasia
Recurrent respiratory infections, Bowing of the long bones, Camptodactyly of finger, Micromelia, ... ORPHA:628
Progressive Supranuclear Palsy-Corticobasal Syndrome
Hand clenching, Respiratory distress ORPHA:240103
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Alopecia, Toe syndactyly, Epicanthus, Short hallux, Supernumerary nipple, Abno... ORPHA:3224
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Ventricular septal defect, Postaxial polydactyly, Micromelia, H... OMIM:617895
Joubert Syndrome 3
Central apnea, Epicanthus, Episodic tachypnea, Highly arched eyebrow, Atrial septal defect, Neona... OMIM:608629
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Rocker bottom foot, Atrial septal defect, Patent foramen ovale, Adducted thumb ORPHA:89844
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Ptosis, Alopecia of scalp, Excessive wrinkling of palmar skin OMIM:210700
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Emphysema, Abnormal hair morphology, Abnormal hair quantity ORPHA:289
Craniosynostosis 3
Hallux valgus, Ptosis, Low anterior hairline, Brachydactyly OMIM:615314
Coffin-Siris Syndrome 4
Sparse scalp hair, Atrial septal defect, Ptosis, Ventricular septal defect, Mitral atresia, Paten... OMIM:614609
Trismus-Pseudocamptodactyly Syndrome
Symphalangism affecting the phalanges of the hand, Ptosis ORPHA:3377
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Short metacarpal, Toe syndactyly, Hypoplasia of eyelid, Redundant skin, Ablepharo... OMIM:200110
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis, Abnormal muscle fiber protein expression ORPHA:330054
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Bicuspid aortic valve, Hyperextensible skin, Short palm, Clinodactyly of the 5... ORPHA:508498
Isolated Atp Synthase Deficiency
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ptosis ORPHA:254913
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Myopathy, Atelectasis, Centrally nucleated skeletal muscle fibers OMIM:300219
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal mitochondria in muscle tissue, Ptosis OMIM:258470
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Ptosis, Respiratory insufficiency due to muscle weakness, Res... OMIM:220110
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Hypoventilation, Apnea, Facial palsy, Stridor, Arthrogryposis multiplex ... OMIM:617143
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Bilateral ptosis, Ragged-red muscle fibers, Respiratory insufficiency, L... OMIM:616479
Leigh Syndrome
Hypertrichosis, Respiratory insufficiency, Respiratory failure, Abnormal pattern of respiration, ... OMIM:256000
Fg Syndrome Type 1
Finger syndactyly, Broad toe, Progressive flexion contractures, Facial wrinkling, Abnormal thumb ... ORPHA:93932
Charge Syndrome
Aortic arch aneurysm, Ptosis, Epicanthus, Facial palsy, Highly arched eyebrow, Abnormal tibia mor... ORPHA:138
Postinfectious Vasculitis
Cerebral vasculitis, Pneumonia, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke... ORPHA:48435
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Hyperextensible skin, Striae distensae, Mitral valve prolapse OMIM:130020
Orofaciodigital Syndrome Type 1
Finger syndactyly, Alopecia, Brittle hair, Epicanthus, Tarsal synostosis, Telecanthus, Preaxial h... ORPHA:2750
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Micromelia, Generalized hypertrichosis, Adducted thumb ORPHA:50810
Mcdonough Syndrome
Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Short palpebral fissure, Ptosis ORPHA:2471
Cluster Headache, Familial
Ptosis, Rhinorrhea OMIM:119915
Oligomeganephronia
Pulmonary venous occlusion, Congenital diaphragmatic hernia ORPHA:2260
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema OMIM:616835
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Abnormal lun... ORPHA:35173
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Hyperextensib... OMIM:130060
8Q24.3 Microdeletion Syndrome
Respiratory distress, Micromelia, Abnormal lung lobation, Finger clinodactyly, Clinodactyly of th... ORPHA:508488
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis, Knee flexion contracture OMIM:619708
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Sparse hair, ... OMIM:607626
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Epicanthus, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber... OMIM:618733
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Overlapping toe, Apnea, Flexion contracture, Elbow flexion contracture, Respirat... OMIM:617301
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Avascular necrosis of the capital femoral epiphysis, Fine hair, Premature graying of ha... OMIM:613990
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Facial palsy, Camptodactyly of finger, Superior rectus atrophy, Levator palpebrae superioris atro... OMIM:600638
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Sparse scalp hair, Atrial septal defect, Overlapping toe, Ventricular septal d... ORPHA:464738
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Thyroid lymphangiectasia, Pancreati... OMIM:235255
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurrent lower r... OMIM:620233
Tuberous Sclerosis Complex
Respiratory distress, Retinal astrocytic hamartoma, Respiratory tract infection, Retinal hamartom... ORPHA:805
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Neoplasm of the lung, Sparse hair ORPHA:659
Chitayat Syndrome
Hallux valgus, Recurrent respiratory infections, Respiratory distress, Abnormal pulmonary interst... OMIM:617180
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Hypopigmentation of hair, Overlapping toe... ORPHA:177907
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow OMIM:614564
Hengel-Maroofian-Schols Syndrome
Epicanthus, Bicuspid aortic valve, Foot joint contracture, Synophrys, Thick eyebrow, Ptosis OMIM:619641
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmon... OMIM:608013
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Synophrys, Conotruncal defect, Coarctation of aorta, Macroglossia, Abnorma... ORPHA:96147
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Alopecia, Ectropion, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Inc... ORPHA:98907
Diaphanospondylodysostosis
Respiratory distress, Epicanthus, Respiratory insufficiency, Hammertoe, Talipes equinovarus, Pulm... OMIM:608022
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Cardiomegaly, Muscle fiber atrophy, Expanded metacarpals wit... OMIM:182250
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia... OMIM:202650
Refsum Disease
Skeletal muscle atrophy, Short metacarpal, Splenomegaly, Respiratory insufficiency, Cardiomyopath... ORPHA:773
Systemic Lupus Erythematosus 17
Alopecia OMIM:301080
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Telecanthus, Sandal gap, Camptodactyly of finger, Highly arched eyebrow, Spars... ORPHA:178303
Lymphedema-Distichiasis Syndrome
Ectropion, Ventricular septal defect, Yellow nails, Patent ductus arteriosus, Tetralogy of Fallot... OMIM:153400
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Epicanthus, Telecanthus, Ventricular septal defect, Proximal placement of t... OMIM:610536
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Sparse hair, Clinodactyly of the 5th finger, Hepatomegaly, Highly arched eyebrow, Pulmonary arter... OMIM:280000
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Recurrent lower respiratory tract infections, Perimembranous ventricular septal ... OMIM:619170
3Mc Syndrome 1
Conjunctival telangiectasia, Atrial septal defect, Telecanthus, Ventricular septal defect, Single... OMIM:257920
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Alopecia, Sparse eyelashes, Lower eyelid coloboma OMIM:616367
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Congenital diaphragmatic hernia OMIM:615919
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Pseudo-Torch Syndrome 3
Respiratory insufficiency, Apnea, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Joubert Syndrome 26
Recurrent upper respiratory tract infections, Ptosis OMIM:616784
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab... OMIM:607823
Pachyonychia Congenita
Respiratory distress, Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nai... ORPHA:2309
Arboleda-Tham Syndrome
Respiratory distress, Secundum atrial septal defect, Conjunctivitis, Atrial septal defect, Sparse... OMIM:616268
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm ORPHA:2437
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Macroglossia, Dry skin, Absent ossification of capital femoral epiphysis ORPHA:226313
Chromosome 3Pter-P25 Deletion Syndrome
Epicanthus, Overlapping toe, Highly arched eyebrow, Postaxial polydactyly, Tapered finger, Synoph... OMIM:613792
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Hepatosplenomegaly, Downslanted palpebral fi... OMIM:616828
Leri Pleonosteosis
Camptodactyly of finger, Abnormal finger morphology, Lack of skin elasticity, Upslanted palpebral... ORPHA:2900
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Respiratory insuff... ORPHA:363623
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Stridor, Increased variability in muscle fiber diameter OMIM:615595
Cardiac-Urogenital Syndrome
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... OMIM:618280
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fourth metatarsal, Short fifth metatarsal, Alopecia, Trichorrhexis nodosa, 2-3 toe syndacty... OMIM:261990
Down Syndrome
Atrial septal defect, Epicanthus, Redundant neck skin, Sandal gap, Ventricular septal defect, Atr... OMIM:190685
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency, Limb muscle weakness, Ptosis ORPHA:97229
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Epicanthus, Proximal placement of thumb, Abnormal thumb morphology, Ptosis ORPHA:1825
Short Syndrome
Alopecia, Telecanthus, Excessive wrinkled skin, Short palm, Sparse hair, Brachydactyly ORPHA:3163
Intellectual Disability-Developmental Delay-Contractures Syndrome
Clinodactyly of the 5th finger, Ptosis, Distal amyotrophy, Congenital foot contractures ORPHA:3454
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Ptosis, Epicanthus, S... ORPHA:3219
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia ORPHA:2075
Costello Syndrome
Hyperextensibility of the finger joints, Redundant neck skin, Atrial septal defect, Sparse hair, ... OMIM:218040
Adult Intestinal Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Ptosis ORPHA:178487
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Lack of skin elasti... ORPHA:90153
Segawa Syndrome, Autosomal Recessive
Ptosis OMIM:605407
Myotonic Dystrophy 1
Respiratory distress, Facial diplegia, Frontal balding OMIM:160900
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Persistent left superior vena cava, Coarctation of aorta OMIM:618494
Cardiomyopathy, Familial Hypertrophic, 27
Pterygium, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, ... OMIM:618052
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Upslanted palpebral fissure, Alopecia, Telecanthus, Fine hair ORPHA:228390
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Diets-Jongmans Syndrome
Umbilical hernia, Inguinal hernia, Interrupted inferior vena cava with azygous continuation, Cong... OMIM:618846
Toriello-Carey Syndrome
Neonatal respiratory distress, Telecanthus, Sparse eyebrow, Patent ductus arteriosus, Coarctation... ORPHA:3338
Orofaciodigital Syndrome I
Syndactyly, Dry hair, Alopecia, Epicanthus, Telecanthus, Abnormal heart morphology, Short 2nd toe... OMIM:311200
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia ORPHA:468678
Congenital Ichthyosiform Erythroderma
Alopecia, Abnormality of the nail, Ectropion ORPHA:79394
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Alopecia, Dry skin, Scaling skin, Nail dystrophy, Alopecia of scalp OMIM:618373
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:614080
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Cardiomegaly, Pneumothorax, Talipes equinovarus, Pulmonary hyp... OMIM:620306
Episodic Ataxia Type 1
Hand clenching, Calf muscle hypertrophy, Respiratory distress ORPHA:37612
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Atelectasis, Hypersensitivity pneumonit... ORPHA:2902
Kasabach-Merritt Syndrome
Respiratory distress, Purpura, Abnormal lymphatic vessel morphology, Hypopnea, Petechiae, Hypertr... ORPHA:2330
Pontocerebellar Hypoplasia, Type 16
Ptosis, Skeletal muscle atrophy, Apnea, Limb hypertonia OMIM:619527
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:261197
Distal Duplication 15Q
Congenital muscular torticollis, Arachnodactyly, Camptodactyly of finger, Blepharophimosis, Downs... ORPHA:1707
Coffin-Siris Syndrome
Sparse scalp hair, Thick eyebrow, Ptosis, Ventricular septal defect, Hypoplastic fifth fingernail... ORPHA:1465
Localized Scleroderma
Skeletal muscle atrophy, Abnormal skin adnexa morphology, Vasculitis, Erythema, Flexion contractu... ORPHA:90289
Frontoocular Syndrome
Epicanthus, Blepharophimosis, Upslanted palpebral fissure, Pulmonic stenosis, Atrial septal defec... OMIM:605321
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Exercise-induced rhabdomyolysis, Ventricular septal defect, E... ORPHA:26793
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Redundant neck skin, 2-3 toe syndactyly, Cutaneous syndactyly, Narrow palpebral fissure, Talipes ... OMIM:236500
Muenke Syndrome
Ptosis, Broad hallux, Capitate-hamate fusion, Low anterior hairline, Cone-shaped epiphyses of the... OMIM:602849
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ptosis, Neonatal respiratory distress, Epicanthus, Ventricular septal defect, Lacrimal duct steno... ORPHA:457193
Pelviscapular Dysplasia
Redundant neck skin, Short femur, Blepharophimosis, Humeroradial synostosis, Elbow flexion contra... ORPHA:93333
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Respiratory ... ORPHA:169189
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Abnormal lung lobation, Abnormal aortic arch morphology, Atrial septa... ORPHA:567
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Hypoplastic toenails, Hyperconvex fingernails, Atrial septal defect, Short... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Hypoplastic toenails, Hyperconvex fingernails, Atrial septal defect, Short... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Hypoplastic toenails, Hyperconvex fingernails, Atrial septal defect, Short... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Hypoplastic toenails, Hyperconvex fingernails, Atrial septal defect, Short... ORPHA:881
Duane-Radial Ray Syndrome
Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Upper limb muscle hypoplasia, Vascula... OMIM:607323
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Ptosis, Abnormal heart valve morphology, Splenomegaly, Asthma, Split hand, Flexion ... OMIM:309900
Arthrogryposis, Distal, Type 2A
Hip contracture, Recurrent respiratory infections, Ptosis, Epicanthus, Rocker bottom foot, Should... OMIM:193700
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Small hand, Mitral valve prolapse, Pulmonic stenosis, Clinodacty... ORPHA:2868
Leukodystrophy, Hypomyelinating, 20
Torticollis, Hirsutism, Ptosis OMIM:619071
Mosaic Trisomy 14
Blepharophimosis, Camptodactyly of finger, Ptosis ORPHA:1703
Trichohepatoneurodevelopmental Syndrome
Synophrys, Coarse hair, Bilateral coxa valga, Clinodactyly of the 5th finger, Thoracic hypertrich... OMIM:618268
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Alopecia, Tibial bowing, Femoral bowing, Genu valgum, Fibular bowing, M... OMIM:600785
Vacterl/Vater Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:887
Noonan Syndrome 6
Curly hair, Epicanthus, Long eyebrows, Bilateral ptosis, Low posterior hairline, Pulmonic stenosi... OMIM:613224
Coenzyme Q10 Deficiency, Primary, 4
Decreased level of coenzyme Q10 in skeletal muscle, Increased intramyocellular lipid droplets, Pt... OMIM:612016
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Cardiomyopathy, Increased variability in muscle fiber... ORPHA:401768
Seckel Syndrome 10
Ventricular hypertrophy, Metaphyseal widening, Abdominal aortic aneurysm OMIM:617253
Lamellar Ichthyosis
Recurrent respiratory infections, Lack of skin elasticity, Sparse hair, Dry skin, Abnormality of ... ORPHA:313
Chromosome 19Q13.11 Deletion Syndrome, Distal
Overlapping toe, Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Cutaneous finger syndactyly,... OMIM:613026
Myhre Syndrome
Atrial septal defect, Sparse hair, Pericardial effusion, Short toe, Patent ductus arteriosus, Gen... OMIM:139210
Takenouchi-Kosaki Syndrome
Overlapping toe, Proximal placement of thumb, Tapered finger, Highly arched eyebrow, Sparse eyebr... OMIM:616737
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Ptosis OMIM:162100
Autism, Susceptibility To, X-Linked 6
Ptosis OMIM:300872
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Swelling of proximal interphalangeal joints, Trans... ORPHA:3260
Joubert Syndrome 7
Central apnea, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydactyly, Tachypnea, ... OMIM:611560
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Epicanthus, Apnea, Rhabdomyosarcoma, Abnormal lung lobation, Coarctation of... ORPHA:1052
Ververi-Brady Syndrome
Upslanted palpebral fissure, Transposition of the great arteries, Clinodactyly of the 5th finger,... OMIM:617982
Microcephaly-Capillary Malformation Syndrome
Ptosis, Ventricular septal defect, Abnormal hair whorl, Small nail, Right ventricular hypertrophy... OMIM:614261
Hutchinson-Gilford Progeria Syndrome
Intracranial hemorrhage, Shallow orbits, Dystrophic fingernails, Absent eyebrow, Lack of skin ela... ORPHA:740
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Facial hypotonia, Postaxial polydactyly, Upper eyelid entropion, Abnormal hair whor... ORPHA:457284
Wiedemann-Rautenstrauch Syndrome
Secundum atrial septal defect, Flexion contracture, Generalized amyotrophy, Genu varum, Long toe,... OMIM:264090
Borjeson-Forssman-Lehmann Syndrome
Skeletal muscle atrophy, Tapered finger, Blepharophimosis, Short toe, Sparse hair, Camptodactyly ... ORPHA:127
Leigh Syndrome
Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ventricular septal defect, Ptosis... ORPHA:506
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Ptosis ORPHA:1373
Olmsted Syndrome 1
Subungual hyperkeratosis, Autoamputation of digits, Flexion contracture, Nail dystrophy, Nail dys... OMIM:614594
Hartsfield Syndrome
Telecanthus, Split hand, Respiratory insufficiency, Aplasia/Hypoplasia of the radius, Downslanted... ORPHA:2117
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Synophrys, Small hand, Short foot, Long eyelashes, Short palm, Genera... ORPHA:238750
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Ptosis, Abnormal distal phalanx morphology of finger, Ep... ORPHA:783
Dworschak-Punetha Neurodevelopmental Syndrome
Ptosis, Dilation of Virchow-Robin spaces, Sparse lateral eyebrow OMIM:619955
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Tapered finger, Patchy alopecia, Talipes equinovarus, Short palm, Clinod... ORPHA:85279
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Highly arched eyebrow, Bilateral ptosis, Synophrys, 2-3 toe syndactyly, Coxa vara, Up... OMIM:614701
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter, Ptosis OMIM:125250
Biotinidase Deficiency
Hepatomegaly, Alopecia, Apnea, Splenomegaly, Tachypnea, Conjunctivitis OMIM:253260
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia ORPHA:958
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Myocarditis, Lack of skin elasticity, Respiratory ins... ORPHA:81
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Alopecia, Upslanted palpebral fissure, Short middle phalanx of finger, Sparse ... ORPHA:1005
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphat... ORPHA:568051
Williams Syndrome
Bicuspid aortic valve, Redundant skin, Abnormal cerebral vascular morphology, Cardiomegaly, Hypop... ORPHA:904
X-Linked Creatine Transporter Deficiency
Redundant skin, Ptosis ORPHA:52503
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Telecanthus, Abnormal hair morphology, ... ORPHA:894
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Epicanthus, Toe syndactyly, Patent ductus arteriosus, Short foot, Hand poly... ORPHA:250989
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Atrial septal defect, Ptosis, Epicanthus, Ventricular septal defect, Tarsal sy... OMIM:157800
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Synophrys, Tracheobronchomalacia, Low anterior hairline, Atrial sept... OMIM:613458
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Pancreatic lymphangiectasis, Postax... ORPHA:1655
Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Blepharophimosis, Patent ductus arteriosus, Smal... OMIM:300712
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Apnea, Respiratory insufficiency, Ptosis OMIM:618226
Infantile Krabbe Disease
Respiratory distress, Cherry red spot of the macula, Respiratory failure, Shoulder girdle muscle ... ORPHA:206436
Acrofrontofacionasal Dysostosis 2
Syndactyly, Redundant neck skin, Broad hallux, Widow's peak, Hand polydactyly, Downslanted palpeb... OMIM:239710
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Epicanthus, Telecanthus, Facial hypotonia, Upslanted palpebral fissure, Lon... ORPHA:438216
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... ORPHA:2326
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasia of the radiu... OMIM:602875
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Flexion contracture, Conjunctivitis, Nail dystrophy, Nail dysplasia, Mitten deformity OMIM:226600
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Facial hypotonia, Ventricular septal defect, Low posterior hairline,... ORPHA:85194
Mesomelia-Synostoses Syndrome
Abnormal eyebrow morphology, Brachydactyly, Ptosis, Telecanthus, Micromelia, Abnormality of the h... ORPHA:2496
Pediatric Systemic Lupus Erythematosus
Alopecia, Myositis, Pericardial effusion, Dyspnea, Pleural effusion ORPHA:93552
Holoprosencephaly
Omphalocele, Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology ORPHA:2162
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Skeletal muscle atrophy, Congenital muscular torticollis, Arachnodactyly, Camp... ORPHA:2215
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Erlenmeyer flask deformity of the femurs, Ptosis OMIM:610539
Gomez-Lopez-Hernandez Syndrome
Alopecia, Downslanted palpebral fissures OMIM:601853
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
1P36 Deletion Syndrome
Aortic arch aneurysm, Abnormal eyebrow morphology, Epicanthus, Abnormal heart valve morphology, C... ORPHA:1606
Incontinentia Pigmenti
Finger syndactyly, Alopecia, Abnormal fingernail morphology, Camptodactyly of finger, Supernumera... ORPHA:464
Feingold Syndrome Type 1
Toe syndactyly, Tricuspid stenosis, Short palpebral fissure, Short middle phalanx of the 2nd fing... ORPHA:391641
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Chime Syndrome
Epicanthus, Ventricular septal defect, Aplasia/Hypoplasia of the phalanges of the hand, Erythema,... ORPHA:3474
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... ORPHA:1329
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Blepharitis, Alopecia totalis OMIM:300918
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Congenital diaphragmatic hernia OMIM:309801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, Muscular dystrophy, Joi... OMIM:615351
Refsum Disease, Classic
Short fourth metatarsal, Cardiomegaly, Cardiomyopathy, Limb muscle weakness, Ptosis OMIM:266500
Kniest Dysplasia
Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Flared metaphysis, ... OMIM:156550
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Laterally curved eyebrow, Atrial septal defect... OMIM:300166
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Auriculocondylar Syndrome
Respiratory distress, Vein of Galen aneurysmal malformation, Ptosis ORPHA:137888
Naxos Disease
Subungual hyperkeratosis, Curly hair, Right ventricular cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Epicanthus, Blepharophimosis, Fine hair, Clinodactyly of the 5th finger, Ptosis ORPHA:3236
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, A... ORPHA:348
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Ptosis, Synophrys, Cutaneous finger syndactyly, Blepharophimosis, Thick eyebrow, Frontalis muscle... OMIM:210745
Lymphedema-Distichiasis Syndrome
Ectropion, Patent ductus arteriosus, Varicose veins, Conjunctivitis, Abnormality of the pulmonary... ORPHA:33001
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Abnormal fingernail morphology, Recurrent re... ORPHA:1775
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Distal amyotrophy, Alopecia, Arachnodactyly, Adducted thumb ORPHA:412057
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Hallux valgus, Ptosis, Telecanthus, Blepharophimosis OMIM:606772
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Arachnodactyly, Deviation of finger, Bilateral talipes equinovarus, Congenital finger flexion con... ORPHA:1154
Arthrogryposis, Distal, Type 3
Ptosis, Decreased muscle mass, Epicanthus, Overlapping toe, Camptodactyly of finger, Knee flexion... OMIM:114300
Mosaic Trisomy 16
Patent ductus arteriosus, Abnormal lung morphology, Coarctation of aorta, Pulmonary hypoplasia, S... ORPHA:1708
Amyloidosis, Hereditary, Transthyretin-Related
Pulmonary edema, Cardiomegaly, Stroke-like episode, Cardiomyopathy, Ptosis OMIM:105210
Freeman-Sheldon Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Talipes equinovarus, Downslanted palpebral fi... ORPHA:2053
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Clinodactyly of the 5th ... ORPHA:3068
Neurofibromatosis Type 1
Abnormal hair quantity, Hypertension, Arterial stenosis ORPHA:636
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Psoriasiform lesion, Recurrent upper respiratory tract infections, Hepatosplenomegaly, ... ORPHA:169154
Biotinidase Deficiency
Respiratory distress, Alopecia, Apnea, Conjunctivitis, Limb muscle weakness, Hyperventilation ORPHA:79241
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly ORPHA:289916
Weill-Marchesani Syndrome 2
Short metacarpal, Ventricular septal defect, Broad metatarsal, Patent ductus arteriosus, Short me... OMIM:608328
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Cherry red... OMIM:268800
Aymé-Gripp Syndrome
Patent ductus arteriosus, Inguinal hernia, Congenital diaphragmatic hernia, Camptodactyly ORPHA:1272
Noonan Syndrome
Abnormal hair quantity, Hepatomegaly, Ptosis, Abnormal pulmonary valve morphology, Pulmonary arte... ORPHA:648
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Dyspnea, Nail pits, Premature graying of hair, Interstitial pneumonitis, N... OMIM:127550
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 4th toe, Telecanthus, Blepharophimosis, Cone-shaped e... ORPHA:397973
Incontinentia Pigmenti
Ridged nail, Alopecia, Supernumerary nipple, Erythema, Nail pits, Fine hair, Coarse hair, Breast ... OMIM:308300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Hepatomegaly, Cardiomegaly, Tachypnea, Respiratory arrest, Hyper... OMIM:201475
Keipert Syndrome
Broad hallux phalanx, Ptosis, Epicanthus, Short hallux, Aplasia/Hypoplasia of the distal phalange... ORPHA:2662
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Highly arched eyebrow, Abnormal toe morphology, Abnormal carpal ... OMIM:216100
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Epicanthus, Bilateral ptosis, Synophrys, 2-3 toe syndactyly, Short foot, Upslanted pa... OMIM:616351
Adnp Syndrome
Respiratory distress, Sparse scalp hair, Broad hallux, Sandal gap, Abnormal toe morphology, Bilat... ORPHA:404448
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... OMIM:261740
Noonan Syndrome 1
Ptosis, Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Low posterior hairline, ... OMIM:163950
Marden-Walker Syndrome
Decreased muscle mass, Epicanthus, Arachnodactyly, Dextrocardia, Radioulnar synostosis, Congenita... OMIM:248700
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Ptosis OMIM:618225
Osteopathia Striata-Cranial Sclerosis Syndrome
Epicanthus, Facial palsy, Coarctation of aorta, Aortic valve stenosis, Abnormal metaphysis morpho... ORPHA:2780
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Centrifugal Lipodystrophy
Alopecia, Erythema, Scaling skin ORPHA:90156
Joubert Syndrome 30
Postaxial hand polydactyly, Tachypnea, Apnea, Ptosis OMIM:617622
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Neonatal respiratory distress, Redundant neck skin, Ulnar deviation of the hand, Ro... OMIM:214100
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Cardiomegaly, Thenar mu... ORPHA:2463
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Ptosis ORPHA:2743
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Axenfeld-Rieger Syndrome
Telecanthus, Redundant skin ORPHA:782
Satoyoshi Syndrome
Tapered finger, Abnormality of the humerus, Abnormal hair morphology, Abnormal femur morphology, ... ORPHA:3130
Trisomy 18
Omphalocele, Hernia, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:3380
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Coarse hair, Hyperextensible skin, Ptosis ORPHA:1185
Immunodeficiency, Common Variable, 10
Trachyonychia, Alopecia totalis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent vira... OMIM:615577
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta OMIM:301022
Hypoglossia With Situs Inversus
Situs inversus totalis, Upper airway obstruction, Respiratory distress OMIM:612776
Tetrasomy 12P
Telecanthus, Sparse eyebrow, Upslanted palpebral fissure, Sparse hair, Ptosis ORPHA:884
Malignant Atrophic Papulosis
Abnormal pericardium morphology, Respiratory failure, Ischemic stroke, Arteritis, Abnormal myocar... ORPHA:679
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers, Ptosis OMIM:610246
Meckel Syndrome, Type 1
Camptodactyly of finger, Patent ductus arteriosus, Coarctation of aorta, Pulmonary hypoplasia, Va... OMIM:249000
Purpura Simplex
Ptosis, Epistaxis, Purpura OMIM:179000
Ane Syndrome
Multiple joint contractures, Alopecia, Ulnar deviation of the hand, Generalized amyotrophy ORPHA:157954
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Absent fingernail, Mitten deformity... OMIM:609638
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Hypoplasia of the radius, Lower eyelid c... ORPHA:245
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Epicanthus, Ventricular septal defect, Bowing of the legs, Splenomegaly, Short toe,... OMIM:269860
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Epicanthus, Redundant neck skin, Overlapping toe, Diastasis recti, Flexion contracture,... ORPHA:254528
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Campomelic Dysplasia
Respiratory distress, Apnea, Anterior tibial bowing, Patellar hypoplasia, Femoral bowing, Tibial ... OMIM:114290
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Ptosis, Redundant neck skin, Overlapping toe, Small nail, Palmoplantar cuti... OMIM:123790
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Flexion contracture, Long eyelashes, Ptosis OMIM:619076
Arthrochalasia Ehlers-Danlos Syndrome
Epicanthus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hyperexte... ORPHA:1899
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Recurrent lower respir... OMIM:253250
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Clinodactyly of the 5th finger, Atrial septal defect, Atrioventricular canal defe... OMIM:274000
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Epicanthus, Facial hypotonia, Tapered finger, Downslanted palpebral fissures, Pt... OMIM:616801
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Mitral valve prolapse, Proximal amyotrophy, Hyperextensible skin, Soft... OMIM:606408
Kikuchi-Fujimoto Disease
Hepatomegaly, Alopecia, Palpebral edema, Splenomegaly, Myocarditis, Vasculitis, Erythema, Abnorma... ORPHA:50918
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Spinocerebellar Ataxia, Autosomal Recessive 32
Ptosis, Torticollis, Hypomimic face OMIM:619862
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Pulmonary... OMIM:151210
Non-Distal Deletion 10Q
Ptosis, Epicanthus, Synophrys, Upslanted palpebral fissure, Clinodactyly of the 5th finger, Overl... ORPHA:1581
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Epicanthus, Supernumerary nipple, Sparse eyebrow, Synophrys, 2-3 toe syndactyly, Upslanted palpeb... OMIM:620098
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Overriding aorta, Ventricular septal defect, Dextro... OMIM:616145
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Splenomegaly, Aortic... ORPHA:2072
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Finger syndactyly, Syndac... OMIM:308050
Ctcf-Related Neurodevelopmental Disorder
Broad hallux phalanx, Atrial septal defect, Chronic lung disease, Sandal gap, Epicanthus, Highly ... ORPHA:363611
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicanthus, Absent eyelashes, Shor... OMIM:268400
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ptosis, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Rodrigues Blindness
Sparse hair, Nasal flaring, Fine hair OMIM:268320
Feingold Syndrome 1
Epicanthus, Ventricular septal defect, Tricuspid stenosis, Short thumb, Short toe, 4-5 toe syndac... OMIM:164280
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Postaxial hand p... OMIM:264480
Joubert Syndrome 14
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Postaxial polydactyly, Intracranial... OMIM:614424
Acrofrontofacionasal Dysostosis
Ptosis, Camptodactyly of finger, Micromelia, Anonychia, Eyelid coloboma, Short distal phalanx of ... ORPHA:1784
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Lacrimal duct stenosis, Cardiomegaly, Ptosis OMIM:618798
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis ORPHA:2057
Myopathy With Extrapyramidal Signs
Hepatomegaly, Epicanthus, Ventricular septal defect, Splenomegaly, Calf muscle hypertrophy, Soft,... OMIM:615673
Mandibuloacral Dysplasia
Alopecia, Contractures of the large joints, Osteolytic defects of the distal phalanges of the han... ORPHA:2457
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra... ORPHA:258
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Mucolipidosis Ii Alpha/Beta
Brittle hair, Cardiomegaly, Metaphyseal widening, Sparse hair, Hepatomegaly, Sparse eyebrow, Spli... OMIM:252500
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Scaling skin on fingertip, Nail dystrophy, Onychogryposis ORPHA:79395
2Q31.1 Microdeletion Syndrome
Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, Short palm, At... ORPHA:251014
Baraitser-Winter Syndrome 2
Long palpebral fissure, Telecanthus, Highly arched eyebrow, Ptosis OMIM:614583
Cardiac Valvular Dysplasia 1
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... OMIM:212093
Noonan Syndrome 4
Curly hair, Epicanthus, Ventricular septal defect, Sparse eyebrow, Bilateral ptosis, Hypertrophic... OMIM:610733
Oculoectodermal Syndrome
Epicanthus, Transient ischemic attack, Supernumerary nipple, Limbal dermoid, Patent ductus arteri... OMIM:600268
Johanson-Blizzard Syndrome
Absent lacrimal punctum, Alopecia, Dextrocardia, Abnormal hair pattern, Abnormal cardiac septum m... ORPHA:2315
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... ORPHA:209905
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Telecanthus, Highly arched eyebrow, Ta... OMIM:303600
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Epicanthus, Telecanthus, Arachnodactyly, Broad hallux, Proximal placement of thumb... OMIM:613776
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Distal lower limb amyotrophy, Recurrent respiratory infections, Facial hypotonia, Flexion contrac... OMIM:300534
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Ptosis, Epicanthus, Overlapping toe, Highly arched eyebr... OMIM:213980
Kabuki Syndrome
Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:2322
Progressive Hemifacial Atrophy
Ptosis ORPHA:1214
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Cardiomegaly, Abnormal finger m... ORPHA:3472
Trisomy 5P
Ptosis, Abnormal metacarpal morphology ORPHA:1742
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Conjunctivitis, Fragile nails OMIM:242150
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Respiratory distress, Aplasia/Hypoplasia of the eyebrow ORPHA:990
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myositis, Sinusitis, Pneumonia, Respiratory tract infection, Myocarditis, T... ORPHA:36234
Japanese Encephalitis
Respiratory distress, Skeletal muscle atrophy, Pulmonary edema, Facial palsy, Elbow flexion contr... ORPHA:79139
Frontonasal Dysplasia 2
Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Sparse eyebrow, Fine hair, Ups... OMIM:613451
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Medial calcification of large arteries, Transient ... ORPHA:51608
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Epicanthus, Facial palsy, Hypoplasia of the musculature, Tapered finger,... OMIM:254940
Bresek Syndrome
Alopecia, Postaxial hand polydactyly ORPHA:85284
Cornelia De Lange Syndrome 1
Inguinal hernia, Elbow flexion contracture, Congenital diaphragmatic hernia, Hiatus hernia OMIM:122470
Diamond-Blackfan Anemia
Radial artery aplasia, Epicanthus, Ventricular septal defect, Absent thumb, Short thumb, Partial ... ORPHA:124
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Small hypothenar eminence, Sparse facial hair, Thenar musc... ORPHA:2232
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Tarsal synostosis, Elbow contracture, Multiple pteryg... OMIM:178110
Spinocerebellar Ataxia With Epilepsy
Myopathy, Ptosis ORPHA:254881
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Entropion, Abnormal pleura morphology, Er... ORPHA:537
Hallermann-Streiff Syndrome
Alopecia, Telecanthus, Sparse eyelashes, Tracheomalacia, Abnormality of hair texture, Sparse eyeb... ORPHA:2108
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Precocious atherosclerosis, Hypovolemia, Stroke, Hypotension, Pulmonary a... ORPHA:275761
Congenital Myopathy 17
Diaphragmatic eventration, Telecanthus, Overlapping toe, Tapered finger, Respiratory tract infect... OMIM:618975
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Respiratory insufficiency, Vascular dilatation OMIM:617641
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Short femur, Metaphyseal spurs, Patent ductus arteriosus, Femoral bowing, S... OMIM:618188
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Recurrent res... ORPHA:2308
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Short thumb, Hypoplasia of th... ORPHA:2319
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Epicanthus, Absent nipple, Patent ductus arteriosus, Mitral valve prolapse, Downslant... OMIM:104350
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Ptosis, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Widow's peak, Fing... ORPHA:306542
Tyshchenko Syndrome
Ventricular septal defect, Thick hair, Supernumerary nipple, Low anterior hairline, Pulmonic sten... OMIM:615102
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Generalized hirsutism, Ptosis ORPHA:1933
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis OMIM:615476
Limb-Mammary Syndrome
Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Chronic irritative conjunctivitis, Absent la... ORPHA:69085
Olmsted Syndrome 2
Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis OMIM:619208
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Patent duct... ORPHA:96191
Listeriosis
Respiratory distress, Pericarditis, Pneumonia, Myocarditis, Rhabdomyolysis, Endocarditis, Respira... ORPHA:533
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis, Blepharospasm ORPHA:98805
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Polydactyly, Tr... ORPHA:137914
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Respiratory arrest, Cardiomegaly OMIM:600649
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Sparse scalp hair, Alopecia, Hepatomegaly, Coxa valga, Flexion contracture, Elbow fle... OMIM:248370
Teebi Hypertelorism Syndrome 2
Syndactyly, Upper eyelid coloboma, Clinodactyly of the 5th finger, Thick eyebrow, Ptosis OMIM:619736
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patellar hypoplasia, Knee flexio... OMIM:609945
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Epicanthus, Ventricular septal defect, Recurrent pneumonia, 2-3 toe syndact... OMIM:616449
Craniofrontonasal Syndrome
Umbilical hernia, Congenital diaphragmatic hernia OMIM:304110
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Flexion contracture, Preaxial polydactyly, Femoral bowing, Knee flexion contracture, ... OMIM:210710
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Downslanted palpebral fissures, Pulmonic stenosis, Ptosis ORPHA:638
Mucopolysaccharidosis Type 3
Hepatomegaly, Recurrent sinopulmonary infections, Thick hair, Cardiomegaly, Avascular necrosis of... ORPHA:581
Eisenmenger Syndrome
Respiratory distress, Hepatomegaly, Ventricular septal defect, Increased pulmonary vascular resis... ORPHA:97214
Phelan-Mcdermid Syndrome
Epicanthus, Ventricular septal defect, Palpebral edema, Hypoplastic toenails, Patent ductus arter... OMIM:606232
Oromandibular Dystonia
Respiratory distress, Torticollis, Blepharospasm ORPHA:93958
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Clinodactyly of th... ORPHA:228396
Simpson-Golabi-Behmel Syndrome
Omphalocele, Death in infancy, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic... ORPHA:373
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertrophy, Ptosis OMIM:617713
Achondroplasia
Respiratory distress, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, ... OMIM:100800
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Dilation of Virchow-Robin s... OMIM:615273
Joubert Syndrome
Apnea, Episodic tachypnea, Highly arched eyebrow, Situs inversus totalis, Hand polydactyly, Foot ... ORPHA:475
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Toe syndactyly, Cone-shaped epiphyses of the distal phalanges of the hand, Short pa... OMIM:618958
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:154400
Inhalational Anthrax
Respiratory distress, Dyspnea, Abnormal sweat gland morphology ORPHA:247257
2P15P16.1 Microdeletion Syndrome
Recurrent respiratory infections, Epicanthus, Telecanthus, Sandal gap, Camptodactyly of finger, S... ORPHA:261349
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Sparse scalp hair, Neonatal respiratory distress, Recurrent respiratory inf... OMIM:614748
Osteoglophonic Dysplasia
Respiratory distress, Short metacarpal, Bowing of the long bones, Rhizomelia, Camptodactyly of fi... OMIM:166250
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Ptosis, Telecanthus, Redundant neck skin, Proximal placement of thumb, Supernumerary nipple, Blep... OMIM:604314
Intellectual Developmental Disorder With Autism And Macrocephaly
Downslanted palpebral fissures, Ptosis OMIM:615032
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Weakness of facial musculature, Facial palsy, Respiratory insufficiency, Ptosis OMIM:616323
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Proximal placement of thumb, Tapered finger, Highly arched eyebrow, Sparse eyebr... ORPHA:487796
Congenital Myopathy 13
Skeletal muscle atrophy, Telecanthus, Hypercapnia, Fatty replacement of skeletal muscle, Flexion ... OMIM:255995
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Upslanted palpebral fissure, Patchy alopecia, Broad distal phalanx of finger, Sparse hair, Broad ... OMIM:617763
Autosomal Dominant Robinow Syndrome
Micromelia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyly, Alopecia, C... ORPHA:3107
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Talipes equinovarus, Camptodactyly, Blepharophimosis, Downslanted palpebral fissures, Ptosis OMIM:617333
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Facial palsy, Achilles tendon ... OMIM:301041
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Low posterior hairline, Long eyelashes, Broad finger, Downslanted palpebral fissures, Ptosis OMIM:617523
Parkinsonism-Dystonia 2, Infantile-Onset
Ptosis, Hypomimic face OMIM:618049
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Chromosome 2P16.1-P15 Deletion Syndrome
Epicanthus, Telecanthus, Arachnodactyly, Metatarsus adductus, Calcaneovalgus deformity, Recurrent... OMIM:612513
Adrenoleukodystrophy
Alopecia, Lower limb muscle weakness OMIM:300100
Cirrhotic Cardiomyopathy
Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Eleva... ORPHA:57777
Chronic Graft Versus Host Disease
Alopecia, Dyspnea, Wheezing, Erythema, Flexion contracture, Bronchiectasis, Skin ulcer, Pneumotho... ORPHA:99921
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Long eyelashes, Facial palsy, Ptosis OMIM:606407
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hyperlipoproteinemia, Type Id
Premature coronary artery atherosclerosis OMIM:615947
Arthrogryposis, Distal, Type 5D
Ptosis, Decreased muscle mass, Highly arched eyebrow, Lagophthalmos, Calcaneovalgus deformity, El... OMIM:615065
Perlman Syndrome
Hepatomegaly, Epicanthus, Ptosis ORPHA:2849
Ruvalcaba Syndrome
Ptosis, Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Small hand, Cli... ORPHA:3121
Joubert Syndrome 37
Sparse hair, Hepatomegaly, Postaxial polydactyly, Ptosis OMIM:619185
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Cardiomegaly ORPHA:3137
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Upslanted palpebral fissure, Synophrys, Supernumerary nipple, Ptosis OMIM:616083
Deafness, X-Linked 7
Telecanthus, Thick eyebrow, Ptosis OMIM:301018
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Hypoplastic fingernail, Abnormal nasolacrimal system morphology, Redundant ski... ORPHA:2658
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Hepatosplenomegaly, Pulmonary interstitial lymphocyte infiltrat... OMIM:606367
Currarino Syndrome
Vascular dilatation OMIM:176450
Shprintzen-Goldberg Syndrome
Bowing of the long bones, Telecanthus, Arachnodactyly, Camptodactyly of finger, Apnea, Aplasia/Hy... ORPHA:2462
Spinocerebellar Ataxia Type 28
Ptosis ORPHA:101109
Intellectual Developmental Disorder, Autosomal Dominant 57
Ptosis, Brachydactyly, Epicanthus, Telecanthus, Hypertrichosis, Upslanted palpebral fissure, Cont... OMIM:618050
Autosomal Recessive Cutis Laxa Type 2A
Excessive wrinkled skin, Hyperextensible skin, Downslanted palpebral fissures, Thick hair ORPHA:357058
Axial Spondylometaphyseal Dysplasia
Neonatal respiratory distress, Respiratory tract infection, Proximal femoral metaphyseal irregula... ORPHA:168549
Holocarboxylase Synthetase Deficiency
Alopecia, Tachypnea, Hyperventilation OMIM:253270
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Leprosy
Absent eyebrow, Alopecia, Autoamputation of digits, Skeletal muscle atrophy, Epistaxis, Loss of e... ORPHA:548
Developmental And Epileptic Encephalopathy 95
Short digit, Short fourth metatarsal, Hepatomegaly, Multiple joint contractures, Highly arched ey... OMIM:618143
Teebi-Shaltout Syndrome
Syndactyly, Telecanthus, Ulnar deviation of the hand, Slow-growing hair, Rocker bottom foot, High... OMIM:272950
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Multiple joint contractures, Low posterior hairline, Short distal phalanx of finger, Br... ORPHA:2959
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Chromosome 3Q13.31 Deletion Syndrome
Epicanthus, Downslanted palpebral fissures, Proximal placement of thumb, Ptosis OMIM:615433
Vitamin D-Dependent Rickets, Type 2A
Epicanthus, Bowing of the legs, Subperiosteal bone resorption, Femoral bowing, Tibial bowing, Fib... OMIM:277440
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Apnea, Cardiomyopathy, Pallor, Thin eyebrow, Aspiration ORPHA:2131
Warburg Micro Syndrome 4
Decreased muscle mass, Flexion contracture, Low anterior hairline, Hirsutism, Ptosis OMIM:615663
Koolen-De Vries Syndrome
Hypopigmentation of hair, Epicanthus, Bicuspid aortic valve, Arachnodactyly, Abnormality of hair ... ORPHA:96169
Baraitser-Winter Cerebrofrontofacial Syndrome
Epicanthus, Telecanthus, Transient ischemic attack, Duplication of thumb phalanx, Highly arched e... ORPHA:2995
Fetal Hydantoin Syndrome
Ptosis, Epicanthus, Low posterior hairline, Coarse hair, Triphalangeal thumb, Short distal phalan... ORPHA:1912
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Telecanthus, Pulmonary hypoplasia OMIM:231680
Wernicke-Korsakoff Syndrome
Ptosis OMIM:277730
C Syndrome
Epicanthus, Toe syndactyly, Redundant skin, Micromelia, Abnormal hair pattern, Congenital diaphra... ORPHA:1308
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ep... OMIM:277170
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Cutis laxa OMIM:270420
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Clubbing, Clubbing of fingers, Nail dystrophy, Nail dysplasia OMIM:175500
Sotos Syndrome
Hip contracture, Ankle flexion contracture, Sparse anterior scalp hair, Small cell lung carcinoma... ORPHA:821
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Stroke, Transient ischemic attack OMIM:274150
Triosephosphate Isomerase Deficiency
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, ... OMIM:615512
Intellectual Developmental Disorder, Autosomal Recessive 65
Supernumerary nipple, Secundum atrial septal defect, Contracture of the proximal interphalangeal ... OMIM:618109
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Downslanted palpebral fissures, Abnormality of the nail, Ptosis ORPHA:1555
Spastic Ataxia 5, Autosomal Recessive
Distal amyotrophy, Lower limb muscle weakness, Increased intramyocellular lipid droplets, Ptosis OMIM:614487
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Thick eyebrow, Torticollis, Bicuspid aortic valve, Ventricular septal defect, Palpebral edema, Sy... OMIM:619475
Bohring-Opitz Syndrome
Recurrent respiratory infections, Facial hypotonia, Apnea, Cardiomegaly, Synophrys, Bilateral wri... ORPHA:97297
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short fourth metatarsal, Hooded eyelid, Synophrys, Low anterior hairline, Sparse hair, Patent for... OMIM:619841
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial septal def... ORPHA:439
Spinocerebellar Ataxia, Autosomal Recessive 31
Clinodactyly of the 5th finger, Ptosis OMIM:619422
Fanconi Anemia
Abnormal eyelid morphology, Abnormal femur morphology, Triphalangeal thumb, Atrial septal defect,... ORPHA:84
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Alopecia, Myositis, Pneumonia, Splenomega... ORPHA:37042
Meckel Syndrome, Type 10
Epicanthus, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Posta... OMIM:614175
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Flexion contracture, Rhizomelia, Recurrent pneumonia OMIM:616271
Ehlers-Danlos Syndrome, Periodontal Type, 1
Prominent superficial veins, Arachnodactyly, Hyperextensible skin, Palmoplantar cutis laxa, Soft ... OMIM:130080
Geroderma Osteodysplastica
Hyperextensible skin, Redundant skin ORPHA:2078
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve... ORPHA:324410
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Soft skin, Hyperextensible skin, Calcaneovalgus deformity, Mitral valve prolapse OMIM:225320
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Curly hair, Respiratory distress, Telecanthus, Overlapping toe, Postaxial polydact... ORPHA:480880
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Alopecia, Abnormal fingertip morphology, Abnormal hair morphology, Osteolytic defects... ORPHA:90154
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Atrial septal defect, Ventricular septal defect, Epicanthus, Loose... OMIM:607721
Joubert Syndrome 35
Telecanthus, Synophrys, Highly arched eyebrow, Ptosis OMIM:618161
Neu-Laxova Syndrome
Skeletal muscle atrophy, Abnormal nasolacrimal system morphology, Micromelia, Abnormal eyelid mor... ORPHA:2671
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Sparse scalp hair, Ptosis, Highly arched eyebrow, Hypoplastic fifth fingernail, Long eyelashes, H... OMIM:615866
Goldberg-Shprintzen Syndrome
Ptosis, Telecanthus, Ventricular septal defect, Highly arched eyebrow, Tapered finger, Synophrys,... OMIM:609460
Congenital Ptosis
Unilateral ptosis, Congenital Horner syndrome, Telecanthus, Congenital facial diplegia, Epicanthu... ORPHA:91411
Huriez Syndrome
Dry skin, Abnormality of the nail, Lack of skin elasticity, Small nail ORPHA:384
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Ptosis OMIM:520000
Distal Deletion 19P
Long toe, Alopecia, Ventricular septal defect, Arachnodactyly, Tricuspid valve prolapse, Pulmonar... ORPHA:96129
Degcags Syndrome
Synophrys, Low anterior hairline, Premature graying of hair, Pallor, Atrial septal defect, Diaphr... OMIM:619488
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Ptosis, Ectropion, Micromelia, Short t... ORPHA:3258
Stt3B-Cdg
Respiratory distress ORPHA:370924
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Dyspnea, Bilateral ptosis, Rhabdomyolysis, Myopathy, Increased intramyoc... OMIM:255125
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow, Sparse eyebrow, Bilateral... OMIM:147920
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Secundum atrial septal defect, Metaphyseal wid... ORPHA:99646
Aase-Smith Syndrome I
Ventricular septal defect, Flexion contracture, Talipes equinovarus, Slender finger, Ptosis OMIM:147800
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress OMIM:615597
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Myocarditis, Nonproductive cough, Atelectasis, Rhinitis, Ecchymos... ORPHA:319213
Frank-Ter Haar Syndrome
Bowing of the long bones, Redundant neck skin, Ventricular septal defect, Metatarsus adductus, Se... OMIM:249420
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Aplasia of the phalanges of the 3rd toe, Dilated cardiomyopathy, Ptosis ORPHA:2229
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Reduced vital capacity, Hand muscle weakness, Penetratin... ORPHA:99956
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ptosis ORPHA:83619
Ascher Syndrome
Abnormal eyelid morphology, Upper eyelid edema, Deviation of finger, Blepharophimosis, Ptosis ORPHA:1253
Osteogenesis Imperfecta, Type X
Respiratory distress, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Recurrent pn... OMIM:613848
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Ventricular septal defect, Abnormal heart morphology, Blepharophimosis, Broad eyebrow... ORPHA:494344
Frontofacionasal Dysplasia
Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner eyelashes, Apl... ORPHA:1791
Galloway-Mowat Syndrome 3
Hypertension, Camptodactyly, Coarctation of aorta OMIM:617729
Smith-Lemli-Opitz Syndrome
Patent ductus arteriosus, Abnormal dental enamel morphology, Congenital diaphragmatic hernia ORPHA:818
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Hepatomegaly, Respiratory distress, Neonatal respiratory distress, Metaphyse... OMIM:260400
Radio-Renal Syndrome
Respiratory distress, Micromelia, Dyspnea, Hypoplasia of the radius, Respiratory failure, Chyloth... ORPHA:3015
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Abnormal mitochondria in muscle tissue, Distal amyotrophy, Lower limb muscle weakness, Ptosis ORPHA:313772
Acromelic Frontonasal Dysostosis
Syndactyly, Telecanthus, Dilation of Virchow-Robin spaces, Preaxial polydactyly, Preaxial foot po... OMIM:603671
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Ptosis, Brachydactyly, Respiratory insufficiency, Abnormal metacarpal morphology ORPHA:93262
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, EMG: myopathic abnormalities, Ptosis OMIM:609286
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly of 2nd-5th fingers, Apneic ep... OMIM:601803
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Nail dystrophy OMIM:616353
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Apnea, Micromelia, Low anterior hairline, Coxa vara, Wrist flexion contr... ORPHA:800
Rothmund-Thomson Syndrome Type 2
Calcinosis, Short metacarpal, Aplasia/hypoplasia involving bones of the upper limbs, Alopecia tot... ORPHA:221016
Ophthalmoplegia, External, And Myopia
Ptosis OMIM:311000
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Hepatomegaly, Recurrent respiratory infections, Reduced forced expiratory volume i... OMIM:613385
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Hyperextensible skin, Petechiae, Striae distensae, Mitral valve prolapse OMIM:225310
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Alopecia, Pneumonia, Abnormal fingertip morphology, Dyspnea, Paronychia, Di... ORPHA:79404
Myasthenic Syndrome, Congenital, 19
Facial palsy, Respiratory insufficiency, Increased variability in muscle fiber diameter, Recurren... OMIM:616720
Sunct Syndrome
Palpebral edema, Rhinorrhea, Facial erythema, Conjunctival hyperemia, Ptosis ORPHA:57145
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Epicanthus, Telecanthus, Low posterior hairline, Genu valgum, Downslanted palpebral fissures, Ptosis ORPHA:1778
Jackson-Weiss Syndrome
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... ORPHA:1540
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Sparse scalp hair, Brachydactyly, Abnormal fingernail morphology, Arachnodactyly, Ptosis ORPHA:2824
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Occipital Horn Syndrome
Venous insufficiency, Coarse hair, Thick hair, Vascular dilatation ORPHA:198
Birk-Landau-Perez Syndrome
Neonatal respiratory distress, Facial hypotonia, Upslanted palpebral fissure, Limb hypertonia, Lo... OMIM:617595
Congenital Enterovirus Infection
Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Pleural effusion ORPHA:292
Immunodeficiency 47
Splenomegaly, Hepatomegaly, Cutis laxa OMIM:300972
Doors Syndrome
Respiratory distress, Epicanthus, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal fi... ORPHA:79500
Wolfram Syndrome 1
Ptosis, Cardiomyopathy, Limited mobility of proximal interphalangeal joint, Stroke-like episode OMIM:222300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Epicanthus, Redundant neck skin, Apnea, Postaxial polydactyly, ... ORPHA:397715
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Hypoplastic toenails, Low anterior... ORPHA:235
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Partial anomalous pulmonary ... OMIM:301044
Rothmund-Thomson Syndrome Type 1
Calcinosis, Short metacarpal, Alopecia totalis, Metaphyseal sclerosis, Patellar aplasia, Finger s... ORPHA:221008
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Short palm, Ptosis, Abnormal thumb morphology, Abnormal finger morphology, Abnormal metacarpal mo... ORPHA:2511
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Rhizomelia, Telecanthus, Flared metaphysis, Coarctati... ORPHA:50945
Omenn Syndrome
Splenomegaly, Hepatomegaly, Alopecia, Pneumonia OMIM:603554
Chromosome 18P Deletion Syndrome
Ptosis, Epicanthus, Toe syndactyly, Redundant neck skin, Coxa vara, Radial deviation of finger, C... OMIM:146390
Porphyria, Congenital Erythropoietic
Hepatomegaly, Absent eyebrow, Alopecia, Splenomegaly, Loss of eyelashes, Conjunctivitis, Joint co... OMIM:263700
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Skeletal muscle atrophy, Abnor... ORPHA:570
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Limb-girdle muscle weakness, Dyspnea, Rhabdomyolysis, Macroglossia, Lower limb musc... OMIM:251900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Atrial septal defect, Aspiration, Patent foramen ovale, Syndactyly, Broad ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Atrial septal defect, Aspiration, Patent foramen ovale, Syndactyly, Broad ... ORPHA:353277
Proximal Xq28 Duplication Syndrome
Blepharophimosis, Epicanthus, Ptosis ORPHA:1762
Polyendocrine-Polyneuropathy Syndrome
Proximal muscle weakness in lower limbs, Alopecia ORPHA:453533
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Cardiomegaly, Flexion contracture, Premature graying of hair, Conjunctiv... OMIM:256040
Intellectual Developmental Disorder, Autosomal Dominant 68
Epicanthus, Broad hallux, Patent ductus arteriosus, 2-3 toe syndactyly, Joint contracture of the ... OMIM:619934
Arthrogryposis Multiplex Congenita 5
Ptosis, Neonatal respiratory distress, Rocker bottom foot, Flexion contracture, Elbow flexion con... OMIM:618947
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis ORPHA:3038
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Arachnodactyly, Lacrimal duct stenosis, Sparse eyebrow, Short ... ORPHA:73246
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia OMIM:616546
Paroxysmal Hemicrania
Palpebral edema, Rhinorrhea, Rhinitis, Conjunctival hyperemia, Ptosis ORPHA:157835
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Ptosis, Limb hypertonia, Hypomimic face ORPHA:70594
Joubert Syndrome With Ocular Defect
Apnea, Dextrocardia, Highly arched eyebrow, Hand polydactyly, Foot polydactyly, Abnormal pattern ... ORPHA:220493
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Recurrent respiratory infections, Epicanthus, Facial hypotonia, 2-3 toe cutaneous syndactyly, Sho... OMIM:300260
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Alopecia, Hirsutism ORPHA:90795
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... OMIM:186500
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Hirsutism, Striae distensae, Proximal amyotrophy ORPHA:189427
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... OMIM:300257
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Ventricular s... OMIM:146510
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Alopecia totalis, Recurrent pharyngitis, Recurrent pneumonia, Recurrent upper respirato... ORPHA:293978
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Abnormal pattern of respiration, Dry skin, Abnormality ... ORPHA:428
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Stroke-like episode, Pallor, Co... ORPHA:137675
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormal nasolacrimal system morphology, Congenital diaphragmatic hernia, A... ORPHA:2556
Goldberg-Shprintzen Megacolon Syndrome
Sparse eyebrow, Finger syndactyly, Sparse scalp hair, Ptosis ORPHA:66629
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Nail dystrophy, Alopecia universalis, Keratoconjunctivitis OMIM:240300
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis, Aortic valve stenosis,... ORPHA:228410
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Ragged-red muscle fibers, Abnormality of the extraocular muscles, Foot dor... ORPHA:298
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Ptosis, Tortuosity of conjunctival vessels, Leg muscle stiffness ORPHA:284289
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism OMIM:615830
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Genu varum, Genu valgum, Abnormal metaphysis morphology, Coarse metaphyseal trabeculari... ORPHA:93160
Sepsis In Premature Infants
Hepatomegaly, Abnormal mucociliary clearance, Splenomegaly, Dyspnea, Nasal flaring, Abnormal resp... ORPHA:90051
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Ptosis ORPHA:324262
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Small nail, Ptosis OMIM:618731
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Intracranial hemorrhage, Respiratory failure... ORPHA:340
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Richieri-Costa/Guion-Almeida Syndrome
Abnormal digit morphology, Eyelid coloboma, Palmoplantar cutis laxa, Downslanted palpebral fissur... OMIM:268850
Orofaciodigital Syndrome V
Unilateral ptosis, Recurrent respiratory infections, Sandal gap, Ventricular septal defect, Posta... OMIM:174300
Zttk Syndrome
Curly hair, Epicanthus, Unilateral lung agenesis, Ventricular septal defect, Sparse eyebrow, Pate... OMIM:617140
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:200980
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Ptosis, Flexion contracture, Generalized limb muscle atrophy, Leg muscle stiffness ORPHA:137898
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
Dyskeratosis Congenita, Digenic
Bilateral ptosis, Alopecia, Sparse eyelashes, Nail dystrophy OMIM:620040
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Downslanted palpebral fissures, Low anterior hairline, Ptosis OMIM:618736
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Blepharophimosis, Metatarsus adductus, Patent ductus arteriosus, 2-3 toe s... OMIM:611962
Stickler Syndrome, Type Vi
Downslanted palpebral fissures, Internal tibial torsion, Ptosis OMIM:620022
Diamond-Blackfan Anemia 21
Hallux valgus, Unilateral ptosis, Sandal gap, Tapered finger, Secundum atrial septal defect, Prea... OMIM:620072
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Brain Dopamine-Serotonin Vesicular Transport Disease
Stridor, Ptosis, Hypomimic face ORPHA:352649
Developmental And Epileptic Encephalopathy 84
Epicanthus, Synophrys, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:618792
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Right aortic arch, Lower-lim... ORPHA:513456
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Entropion, Erythema, Ankyloblepharon, Pterygium, Dry skin,... ORPHA:910
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Recurrent respiratory infections, Camptodactyly of fin... ORPHA:2273
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypoxemia, Stroke OMIM:603903
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Ptosis ORPHA:275872
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Ptosis, Centrally nucleated skeletal muscle fibers, Ra... OMIM:607459
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93259
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Low posterior hairline, Congenital bilateral ptosis, Clinodactyly of the 5... ORPHA:73272
Monosomy 9P
Hernia, Congenital diaphragmatic hernia ORPHA:261112
Acrocraniofacial Dysostosis
Ptosis, Telecanthus, Abnormal fingernail morphology, Tapered finger, Coxa valga, Ulnar deviation ... ORPHA:949
Hypotonia-Cystinuria Syndrome
Epicanthus, Ptosis ORPHA:163690
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal h... ORPHA:79282
Muenke Syndrome
Hypopigmentation of hair, Tarsal synostosis, Short foot, Short palm, Carpal synostosis, Ptosis ORPHA:53271
Colchicine Poisoning
Respiratory distress, Myocarditis, Alopecia, Cardiorespiratory arrest ORPHA:31824
Joubert Syndrome With Oculorenal Defect
Apnea, Highly arched eyebrow, Tachypnea, Hand polydactyly, Foot polydactyly, Ptosis ORPHA:2318
Microphthalmia, Syndromic 13
Ptosis OMIM:300915
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Abnormality of hair pigmentation, Mitral valve prolapse, Hyperexte... ORPHA:90354
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Enlarged interphalangeal joints, Highly arched eyebrow, Proximal placement of thumb, Abnormality ... ORPHA:2988
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Absent eyebrow, Curly hair, Slow-growing hair, Atrial se... OMIM:115150
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Cough, Vasculitis, Pleural empyema, Abnormal metac... ORPHA:228123
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Ab... ORPHA:2526
Ohdo Syndrome
Epicanthus, Blepharophimosis, Sparse eyebrow, Clinodactyly of the 5th finger, Ptosis OMIM:249620
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Dry hair, Hypopigmentation of hair, Telecanthus, Widow's peak, Short foot, Ups... ORPHA:1974
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Ptosis OMIM:618155
Rothmund-Thomson Syndrome
Calcinosis, Hypoplasia of the ulna, Sparse eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the... ORPHA:2909
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Hepatomegaly, Respiratory distress, Pulmonary fibrosis OMIM:612852
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Alopecia, Respiratory failure requiring assisted ventilation, Abnormalit... ORPHA:273
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Abnormal distal phalanx morphology of finger, Micromelia, Abnormal metacarpal morpholog... ORPHA:2636
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Multiple joint contractures, Ptosis ORPHA:363429
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ptosis, Respiratory insufficiency due to muscle weakness, Skeletal muscle steatosis... ORPHA:436271
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Epicanthus, Telecanthus, Palpebral edema, Sparse axillary hair, Blepharophimos... OMIM:181270
Zygomycosis
Ptosis, Pericarditis, Sinusitis, Epistaxis, Myocarditis, Atelectasis, Pneumothorax, Endocarditis,... ORPHA:73263
Intellectual Developmental Disorder, Autosomal Dominant 56
Upslanted palpebral fissure, Ptosis, Hypomimic face OMIM:617854
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Epicanthus, Overlapping toe, Arachnodactyly, Contracture of t... ORPHA:83617
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Ptosis OMIM:616239
Geleophysic Dysplasia 1
Short palm, Hepatomegaly, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Coxa valg... OMIM:231050
Chronic Visceral Acid Sphingomyelinase Deficiency
Respiratory failure requiring assisted ventilation, Progressive pulmonary function impairment, Ab... ORPHA:77293
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Rhyns Syndrome
Ptosis ORPHA:140976
Cohen-Gibson Syndrome
Epicanthus, Thin nail, Coxa valga, Long fingers, Patent ductus arteriosus, Flexion contracture, F... OMIM:617561
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Atrial septal defect, Ptosis, Ventricular septal defect, Highly arched eyebrow... ORPHA:1519
Crouzon Syndrome
Conjunctivitis, Respiratory insufficiency, Ptosis ORPHA:207
Kleefstra Syndrome Due To A Point Mutation
Tapered finger, Abnormal heart morphology, Hyperextensible skin, Abnormal shape of the palpebral ... ORPHA:261652
Autosomal Recessive Dopa-Responsive Dystonia
Talipes equinovarus, Ptosis ORPHA:101150
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Facial diplegia, Ptosis OMIM:612073
Iniencephaly
Omphalocele, Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia ORPHA:63259
Diamond-Blackfan Anemia 1
Epicanthus, Ventricular septal defect, Tricuspid stenosis, Absent thumb, Short thumb, Partial dup... OMIM:105650
Wolf-Hirschhorn Syndrome
Hernia, Congenital diaphragmatic hernia ORPHA:280
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Highly arched eyebrow, Patent ductus arteriosus, Hypoxemia, Pul... ORPHA:2282
Houge-Janssens Syndrome 1
Downslanted palpebral fissures, Congenital muscular torticollis, Facial hypotonia, Ptosis OMIM:616355
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Epicanthus, Dilation of Virchow-Robin spaces, Almond-shaped palpebral fissu... OMIM:619512
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Epicanthus, Bicuspid aortic valve, Highly arched eyebrow, Splenomegaly, Fine hair, Low posterior ... OMIM:613563
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Low posterior hairline, Synostosis of carpal bones, P... ORPHA:1323
Joubert Syndrome With Renal Defect
Apnea, Highly arched eyebrow, Hand polydactyly, Abnormal pattern of respiration, Ptosis ORPHA:220497
X-Linked Ehlers-Danlos Syndrome
Hyperextensible skin ORPHA:75497
Combined Oxidative Phosphorylation Deficiency 32
Joint contracture, Ptosis OMIM:617664
Pde4D Haploinsufficiency Syndrome
Ptosis, Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb undergrowth, Narr... ORPHA:439822
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Respiratory insufficiency, Ptosis OMIM:618170
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Epicanthus, Tapered finger, Patent ductus arteriosus, Coarctation of aorta, Unilater... OMIM:619480
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Rhizomelia, Redundant skin, Irregular tarsal ... OMIM:250220
Joubert Syndrome 1
Central apnea, Epicanthus, Episodic tachypnea, Highly arched eyebrow, Postaxial hand polydactyly,... OMIM:213300
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Talipes equinovarus, Ptosis OMIM:619972
Nail-Patella Syndrome
Ridged nail, Biceps aplasia, Concave nail, Absence of pectoralis minor muscle, Triceps aplasia, P... OMIM:161200
Immunodeficiency 7
Splenomegaly, Hepatomegaly, Patchy alopecia, Recurrent respiratory infections OMIM:615387
Fucosidosis
Hepatomegaly, Decreased muscle mass, Abnormality of the nail, Cardiomegaly ORPHA:349
3Mc Syndrome
Telecanthus, Diastasis recti, Supernumerary nipple, Highly arched eyebrow, Radioulnar synostosis,... ORPHA:293843
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Broad hallux, Bicuspid aortic valve, Ventricular septal defect,... ORPHA:353281
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... ORPHA:51636
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Talipes equinovarus, Ptosis OMIM:619465
Spinocerebellar Ataxia, Autosomal Recessive 13
Ptosis OMIM:614831
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Pleural effusion, Co... ORPHA:1546
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Ptosis, Epicanthus, Facial palsy, Aplasia of the pectoralis major muscle... ORPHA:1358
Van Maldergem Syndrome 2
Short fourth metatarsal, Ulnar deviation of the hand, Epicanthus, Blepharophimosis, High anterior... OMIM:615546
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai... OMIM:305000
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Arthrogryposis multiplex congenita, Ptosis OMIM:243180
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93260
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Myopathy, Weakness of facial musculature, Ptosis ORPHA:98673
Multiple Osteochondromas
Pneumothorax, Pseudoaneurysm, Hemothorax ORPHA:321
Congenital Disorder Of Glycosylation, Type 2V
Epicanthus, Low posterior hairline, Narrow palpebral fissure, Talipes equinovarus, Downslanted pa... OMIM:619493
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia,... ORPHA:116
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Hallux valgus, Thumb contracture, Short nail, Duplication of distal phalanx of toe, Tapered finge... ORPHA:324540
Spinocerebellar Ataxia 47
Ptosis, Clinodactyly, Small hand, Tapered finger OMIM:617931
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Ptosis OMIM:615838
Stüve-Wiedemann Syndrome
Respiratory distress, Bowing of the long bones, Apnea, Camptodactyly of finger, Micromelia, Metap... ORPHA:3206
Coffin-Siris Syndrome 1
Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Umbilical hernia, Tet... OMIM:135900
Spinocerebellar Ataxia, Autosomal Recessive 8
Ptosis OMIM:610743
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Lathosterolosis
Epicanthus, Toe syndactyly, Foam cells with lamellar inclusion bodies, Postaxial hand polydactyly... OMIM:607330
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Epicanthus, Arachnodactyly, Recurrent pneumonia, Respiratory insufficiency, Excessive wrinkled sk... OMIM:225400
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Palpebral edema, Fingernail dysplasia, Ptosis ORPHA:1259
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Ptosis, Cardiomyopathy, Dilated cardiomyopathy, Finger joint contracture OMIM:212112
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Fl... OMIM:271640
Native American Myopathy
Skeletal muscle atrophy, Bilateral ptosis, Abnormality of skeletal muscle fiber size, Respiratory... ORPHA:168572
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis,... OMIM:244400
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Cardiomegaly,... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy, Redundant neck skin OMIM:611719
Non-Specific Early-Onset Epileptic Encephalopathy
Ptosis, Downslanted palpebral fissures, Limb hypertonia ORPHA:442835
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Perianal erythema, Sparse scalp hair, Atrial ... OMIM:308205
Floating-Harbor Syndrome
Atrial septal defect, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Short m... OMIM:136140
Jacobsen Syndrome
Atrial septal defect, Recurrent respiratory infections, Ptosis, Ventricular septal defect, Epican... OMIM:147791
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Ptosis, Widow's peak, Short foot, Short 5th ... OMIM:305400
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Alopecia OMIM:210210
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... ORPHA:268
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Highly arched eyebrow, Tachypnea, Low anterior hairline, A... OMIM:220111
Schinzel-Giedion Syndrome
Respiratory distress, Overlapping toe, Generalized hypertrichosis, Recurrent pneumonia, Tibial bo... ORPHA:798
Noonan Syndrome 3
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Downslant... OMIM:609942
Hydranencephaly
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr... ORPHA:2177
17Q24.2 Microdeletion Syndrome
Synophrys, Hemihypotrophy of lower limb, Patent ductus arteriosus after birth at term, Upper limb... ORPHA:529962
Multiple Benign Circumferential Skin Creases On Limbs
Increased number of skin folds, Epicanthus, Generalized hirsutism ORPHA:2505
Simpson-Golabi-Behmel Syndrome, Type 1
Inguinal hernia, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Patent ductu... OMIM:312870
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Patchy hypopigmentation of hair, Ptosis... ORPHA:233
3Mc Syndrome 2
Torticollis, Diastasis recti, Hypoplasia of the musculature, Highly arched eyebrow, Partial abdom... OMIM:265050
3Mc Syndrome 3
Diastasis recti, Highly arched eyebrow, Epicanthus inversus, Preaxial polydactyly, Radioulnar syn... OMIM:248340
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Ptosis ORPHA:1876
Digeorge Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Chronic pulmonary obstruction,... OMIM:188400
Codas Syndrome
Epicanthus, Short metacarpal, Ventricular septal defect, Brachydactyly, Ptosis ORPHA:1458
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Atelectasi... OMIM:618278
Wiedemann-Steiner Syndrome
Epicanthus, Telecanthus, Rhizomelia, Tapered finger, Synophrys, Long eyelashes, Clinodactyly of t... ORPHA:319182
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Stippled calcification in ca... OMIM:302960
Acromelic Frontonasal Dysplasia
Telecanthus, Upper airway obstruction, Patellar hypoplasia, Talipes equinovarus, Preaxial foot po... ORPHA:1827
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Recurrent respiratory infections, Epicanthus, Tapered finger, Long fingers, Low anter... OMIM:619950
Intestinal Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Ptosis ORPHA:178481
B4Galt1-Cdg
Splenomegaly, Hepatomegaly, Redundant neck skin ORPHA:79332
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Ptosis ORPHA:1473
Gabriele-De Vries Syndrome
Hallux valgus, Distal lower limb amyotrophy, Telecanthus, Sandal gap, Facial hypotonia, Lacrimal ... ORPHA:506358
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Synophrys, Premature graying ... ORPHA:3440
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Telecanthus, Broad hallux, Tapered finger, Short thumb, Low anterior hairline, Upsla... OMIM:620224
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Hepatomegaly, Autoamputation of digits, Skeletal muscle atrophy, Acral ulce... OMIM:256810
Toxin-Mediated Infectious Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Ptosis ORPHA:230800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Distal lower limb amyotrophy, Alopecia, Erythema, Nail dystrophy, Onychogryposis ORPHA:79396
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia OMIM:304790
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Supernumerary nipple, Tapered finger, Hypoplastic toenails, Short thumb, Synop... ORPHA:477993
Van Maldergem Syndrome 1
Short fourth metatarsal, Epicanthus, Blepharophimosis, Cutaneous finger syndactyly, Talipes equin... OMIM:601390
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... OMIM:300967
Thrombocytopenia, Paris-Trousseau Type
Clinodactyly, Radial deviation of finger, Ptosis OMIM:188025
Glycogen Storage Disease Xii
Hepatomegaly, Ptosis, Epicanthus, Splenomegaly, Low posterior hairline, Myopathy, Increased varia... OMIM:611881
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, Um... OMIM:305600
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Facial diplegia, Facial paralysis, Ptosis OMIM:613559
Autosomal Dominant Progressive External Ophthalmoplegia
Ptosis, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red muscle fiber... ORPHA:254892
Liver Disease, Severe Congenital
Hepatomegaly, Dry hair, Pulmonary edema, Ventricular septal defect, Left atrial enlargement, Pneu... OMIM:619991
Cerebrotendinous Xanthomatosis
Precocious atherosclerosis, Abnormal lung morphology, Tendon xanthomatosis, Distal amyotrophy, Ab... ORPHA:909
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Epicanthus, Tapered finger, Intraventricular hemorrhage, Narrow palpebral fissure, Talipes equino... OMIM:613603
Craniosynostosis 6
Low anterior hairline, Ptosis OMIM:616602
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Coxa vara, Restrictive ventilatory defect, Talipes equinovarus, Delayed cal... OMIM:183900
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Upper limb muscle weakness, Facial diplegia, Distal amyotrophy, Lower li... ORPHA:254930
Pachydermoperiostosis
Abnormal hair quantity, Hepatomegaly, Ptosis, Abnormal fingernail morphology, Abnormal hair patte... ORPHA:2796
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Epicanthus, Brachydactyly, Long eyelashes, Broad lateral eyebrow, Ptosis OMIM:608624
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Pericarditis, Abnormal mitral valve morphology, Dextrocardi... ORPHA:3310
Poland Syndrome
Aplasia of the pectoralis major muscle, Absence of subcutaneous fat, Congenital diaphragmatic hernia ORPHA:2911
X-Linked Intellectual Disability Due To Gria3 Mutations
Eversion of lateral third of lower eyelids, Abnormality of muscle size, Facial hypotonia, Ptosis ORPHA:364028
Pallister-Hall Syndrome
Abnormal lung lobation, Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyl... ORPHA:672
Orofaciodigital Syndrome Xvi
Apnea, Postaxial hand polydactyly, Postaxial foot polydactyly, Short palpebral fissure, Ptosis OMIM:617563
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Erdheim-Chester Disease
Abnormal pericardium morphology, Dyspnea, Abnormal pulmonary interstitial morphology, Pleural eff... ORPHA:35687
Igg4-Related Kidney Disease
Pericarditis, Abnormal lung morphology, Interstitial pneumonitis, Abnormal aortic morphology, Art... ORPHA:449395
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Apnea, Highly arched eyebrow, Splenomegaly, Postaxial hand polydactyly, Abnormal pa... ORPHA:1454
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Abnormal location of the eyebrow, Ventricular septal def... ORPHA:141099
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Secundum atrial septal defect, Short foot, Upslanted palpebral ... OMIM:619758
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea, Lower limb amyotrophy, Ptosis ORPHA:466722
Helsmoortel-Van Der Aa Syndrome
Ectropion of lower eyelids, Eyelid coloboma, Short 4th toe, Atrial septal defect, Clinodactyly of... OMIM:615873
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Apnea, Dyspnea, Ragged-red muscle fibers, Dilated cardiomyopathy, Episodic respirat... ORPHA:255210
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Trichiasis, ... ORPHA:95455
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Cardiomyopathy, Ptosis OMIM:619046
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... OMIM:157640
Myasthenic Syndrome, Congenital, 22
Ptosis OMIM:616224
Limb Body Wall Complex
Ventral hernia, Diastasis recti, Congenital diaphragmatic hernia ORPHA:2369
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Apnea, Cardiorespiratory arrest, Blepharospasm, Limb hypertonia, Ptosis OMIM:608643
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Clinodactyly of the 5th finger, Ptosis OMIM:221320
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Ptosis, Epicanthus, Abnormal h... ORPHA:794
Developmental And Epileptic Encephalopathy 110
Small hand, Ptosis OMIM:620149
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Myopathy, Respiratory failure, Keratoconjunctivitis sicca, Talipes eq... ORPHA:14
Frias Syndrome
Downslanted palpebral fissures, Ptosis OMIM:609640
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Skeletal muscle atrophy, Apnea, Splenomegaly, Ragged-red muscle fibers, Concentric ... OMIM:252010
Blepharophimosis, Ptosis, And Epicanthus Inversus
Telecanthus, Highly arched eyebrow, Sparse pubic hair, Blepharophimosis, Epicanthus inversus, Ptosis OMIM:110100
Wound Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Ptosis ORPHA:178475
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Ulnar deviation of the hand, Ptosis, Rocker bottom foot, ... OMIM:208150
Branchio-Oculo-Facial Syndrome
Preaxial hand polydactyly, Nasolacrimal duct obstruction, Premature graying of hair, Upslanted pa... ORPHA:1297
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Ptosis, Thick eyebrow, Tapered finger, Flexion contracture, Flared metaphysis, Genu valgum, Kerat... OMIM:616007
Wagr Syndrome
Ptosis ORPHA:893
Alagille Syndrome 1
Coarctation of aorta, Stroke, Renal artery stenosis, Tetralogy of Fallot, Peripheral pulmonary ar... OMIM:118450
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Facial palsy, Pneumonia, Hypercapnia, Respira... ORPHA:79138
Marden-Walker Syndrome
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect, Dext... ORPHA:2461
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal internal carotid artery morphology, Abnorm... ORPHA:97685
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Alopecia, Pneumonia, Enlarged polycystic ovaries, Hirsutism ORPHA:2298
Ohdo Syndrome, X-Linked
Epicanthus, Ulnar deviation of the hand, Overlapping toe, Sparse eyebrow, Short thumb, High anter... OMIM:300895
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Blepharophimosis, Respiratory insufficiency, Ptosis ORPHA:2031
Kbg Syndrome
Syndactyly, Telecanthus, Synophrys, Low anterior hairline, Cutaneous syndactyly, Low posterior ha... OMIM:148050
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Dyspnea, Patellar aplasia, Respiratory failure, Br... ORPHA:2554
9Q21.13 Microdeletion Syndrome
Long palpebral fissure, Ptosis, Polydactyly, Abnormal heart morphology ORPHA:531151
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Inguinal hernia, Congenital diaphragmatic hernia, Contracture of the dis... OMIM:613406
Celiac Disease, Susceptibility To, 1
Alopecia OMIM:212750
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Inguinal hernia ORPHA:221120
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Nail... OMIM:615895
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Epicanthus, Nasal flaring, Asthma, Synophrys, Short palm, Long palpebral fissure, Brachydactyly ORPHA:466943
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Ptosis OMIM:618098
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Telecanthus, Arachnodactyly, Diastasis recti, Pneumothorax, Mitral valve prolapse, Hyperextensibl... OMIM:601776
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Abnormal lung lobation, At... OMIM:270400
Spinocerebellar Ataxia 50
Ptosis OMIM:620158
Frontorhiny
Brachydactyly, Epicanthus, Camptodactyly of finger, Widow's peak, Finger clinodactyly, Ptosis ORPHA:391474
Hydrocephalus, Congenital, 3, With Brain Anomalies
Redundant neck skin OMIM:617967
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Supernumerary nipple, Pulmonary artery stenosi... OMIM:235730
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly OMIM:251110
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia OMIM:273395
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Ptosis OMIM:609654
Gitelman Syndrome
Pericardial effusion, Varicose veins, Rhabdomyolysis, Respiratory distress ORPHA:358
Ayme-Gripp Syndrome
Sparse scalp hair, Pericarditis, Ptosis, Tapered finger, Upslanted palpebral fissure, Radioulnar ... OMIM:601088
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency, Knee flexion contracture, Weakness of facial musculature, Ptosis OMIM:617239
Vici Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Epicanthus, Albinism, Dilated cardiom... OMIM:242840
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Hyperextensible skin, Dermal translucency OMIM:619115
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Highly arched eyebrow, Tapered finger, Hypoplastic toenails, Short thumb, Synophrys, Supernumerar... OMIM:616728
Hardikar Syndrome
Portal hypertension, Hematemesis, Patent ductus arteriosus, Pulmonary artery stenosis, Partial an... OMIM:301068
Infant Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Keratoconjunctivitis sicca, Ptosis ORPHA:178478
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Coach Syndrome 3
Ptosis OMIM:619113
Proteus Syndrome
Decreased muscle mass, Pulmonary embolism, Abnormal finger morphology, Abnormal lung lobation, Cl... ORPHA:744
Dermatosparaxis Ehlers-Danlos Syndrome
Epicanthus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Excessive... ORPHA:1901
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy,... ORPHA:70595
Lateral Meningocele Syndrome
Epicanthus, Ventricular septal defect, Low posterior hairline, Downslanted palpebral fissures, Pt... ORPHA:2789
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Ptosis, Overlapping toe, Tapered finger, Epicanthus inversus, Flexion co... OMIM:309590
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Epicanthus, Camptodactyly of finger, Abnormal metacarpal morphology, Blepharop... ORPHA:284160
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Decreased muscle mass, Sparse eyebrow, Long fingers, Syn... OMIM:309583
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Epicanthus, Camptodactyly, Downslanted palpebral fissures, Short pa... OMIM:614230
Neonatal Adrenoleukodystrophy
Ptosis ORPHA:44
Kearns-Sayre Syndrome
Cardiomyopathy, Ragged-red muscle fibers, Ptosis OMIM:530000
20Q11.2 Microduplication Syndrome
Epicanthus, Palpebral edema, Short foot, Abnormal shape of the palpebral fissure, Short palm, Cli... ORPHA:363659
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Long toe, Sparse scalp hair, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Co... OMIM:130070
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Ptosis ORPHA:2064
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Fryns Syndrome
Omphalocele, Aplasia of the left hemidiaphragm, Stillbirth, Camptodactyly, Joint contracture of t... OMIM:229850
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Ptosis OMIM:614153
Pyruvate Dehydrogenase E2 Deficiency
Ptosis OMIM:245348
Ethylene Glycol Poisoning
Facial palsy, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonar... ORPHA:31826
Good Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Cough, Ptosis ORPHA:169105
Charge Syndrome
Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Pulmonary artery atresia, ... OMIM:214800
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Ptosis ORPHA:276198
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatosplenomegaly, Camptodactyly, Clinodactyly, Chronic lung disease, Ptosis ORPHA:228426
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Dyspnea, Neoplasm of the lung, Bronchospasm, Ptosis ORPHA:100085
Johanson-Blizzard Syndrome
Sparse scalp hair, Portal hypertension, Dilated cardiomyopathy, Frontal upsweep of hair, Hypoplas... OMIM:243800
Dystonia 34, Myoclonic
Torticollis, Ptosis OMIM:619724
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Neonatal asphyxia, Blepharophimosis, Ptosis ORPHA:2728
Lacrimoauriculodentodigital Syndrome
Abnormal digit morphology, Syndactyly, Finger syndactyly, Short thumb, Patent ductus arteriosus, ... ORPHA:2363
Iatrogenic Botulism
Dyspnea, Ptosis ORPHA:254509
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Cardiomegaly OMIM:619259
Linear Nevus Sebaceus Syndrome
Alopecia, Telecanthus ORPHA:2612
Kosaki Overgrowth Syndrome
Xanthelasma, Hyperextensible skin, Downslanted palpebral fissures, Ptosis OMIM:616592
Menke-Hennekam Syndrome 1
Epicanthus, Telecanthus, Overlapping toe, Broad hallux, Sandal gap, Blepharophimosis, Flexion con... OMIM:618332
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... OMIM:619534
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly OMIM:251100
Myasthenia Gravis
Dyspnea, Myositis, Ptosis ORPHA:589
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy, Ptosis OMIM:613077
Okamoto Syndrome
Ptosis, Redundant neck skin, Ventricular septal defect, Abnormal mitral valve morphology, Splenom... ORPHA:2729
Cdags Syndrome
Sparse scalp hair, Ptosis, Sparse eyelashes, Sparse eyebrow, Ectropion OMIM:603116
Chand Syndrome
Curly hair, Short fifth metatarsal, Atelectasis, Ankyloblepharon, Nail dysplasia, Dry skin ORPHA:1401
Machado-Joseph Disease
Distal amyotrophy, Ptosis OMIM:109150
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Lower limb muscle weakness, Ptosis ORPHA:88644
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Low posterior hairline, Coarctation of aorta, Muscle hypertro... ORPHA:1772
Okur-Chung Neurodevelopmental Syndrome
Ptosis, Epicanthus, Broad hallux, Highly arched eyebrow, Synophrys, Abnormal heart morphology, Cl... OMIM:617062
Inhalational Botulism
Dyspnea, Ptosis ORPHA:254504
Joubert Syndrome 8
Ptosis, Hepatomegaly, Hyperventilation OMIM:612291
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro... ORPHA:572333
Craniofacial Microsomia 1
Ventricular septal defect, Hypoplasia of facial musculature, Blepharophimosis, Patent ductus arte... OMIM:164210
Intellectual Developmental Disorder, Autosomal Dominant 29
Sandal gap, Broad hallux, Synophrys, Cutaneous finger syndactyly, Downslanted palpebral fissures,... OMIM:616078
Yunis-Varon Syndrome
Redundant neck skin, Short metatarsal, Absent hallux, Absent fingernail, Aspiration pneumonia, Pa... OMIM:216340
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia ORPHA:199
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatosplenomegaly, Drumstick terminal phalanges, Hyperextensible skin, Soft, doughy skin, Dermal... ORPHA:541423
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Conjunctival hyperemia, Rhabdomyolysis, Cough, ... ORPHA:509
Galloway-Mowat Syndrome 1
Epicanthus, Talipes equinovarus, Small nail, Camptodactyly, Hand clenching, Joint contracture of ... OMIM:251300
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory... OMIM:618426
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor, Ptosis ORPHA:13
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Ptosis OMIM:618451
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Telecanthus, Diastasis recti, Soft skin, Hooded upper eyelid, Ptosis OMIM:618548
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Alopecia, Abnormal pulmonary interstitial morphology ORPHA:227990
Neuroocular Syndrome
Hyperextensibility of the finger joints, Scapular winging, Brittle hair, Ptosis, Highly arched ey... OMIM:619539
Isolated Complex I Deficiency
Hepatomegaly, Respiratory insufficiency, Hypertrophic cardiomyopathy, Abnormal mitochondria in mu... ORPHA:2609
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Ptosis, Symphalangism affecting the phalanges of the hand, Clin... ORPHA:710
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Hyperextensible skin, Dermal translucency OMIM:619120
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Dilatation of the ventricular cavity, Thickened Achilles tendon ORPHA:85438
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Keratoconjunctivitis OMIM:269200
Trichotillomania
Alopecia OMIM:613229
Bloom Syndrome
Sparse eyelashes, Pneumonia, Bronchitis, Respiratory tract infection, Paronychia, Chronic pulmona... ORPHA:125
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Alopecia, Abnormal pulmonary interstitial morphology ORPHA:227982
Arachnoid Cyst
Lower limb muscle weakness, Facial palsy, Subarachnoid hemorrhage, Ptosis ORPHA:2356
Pontine Tegmental Cap Dysplasia
Aspiration, Facial palsy, Ptosis OMIM:614688
Foodborne Botulism
Respiratory insufficiency due to muscle weakness, Cardiorespiratory arrest, Ptosis ORPHA:228371
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Epicanthus, Tapered finger, Synophrys, Genu valgum, Hepatosplenomegaly, Talipes equ... OMIM:301066
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Flexion contracture, Hypoplasia of eyelid, Genu valgum OMIM:619321
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Cardiomyopathy, Abnormal myocardium mo... ORPHA:228308
Acrofrontofacionasal Dysostosis 1
Ptosis, Short metacarpal, Long eyebrows, Widow's peak, Long eyelashes, Small nail, S-shaped palpe... OMIM:201180
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Ptosis, Short metacarpal, Redundant neck skin, Brachydactyly, Epicanthus, Short metatarsal, Spars... OMIM:617157
Dubowitz Syndrome
Syndactyly, Sparse scalp hair, Ptosis, Epicanthus, Telecanthus, Blepharophimosis, Clinodactyly of... OMIM:223370
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Ptosis, Short metacarpal, Short fourth metatarsal, Overlapping toe, Epicanthus, Femoral bowing, S... OMIM:616723
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ptosis OMIM:560000
Rhyns Syndrome
Ptosis, Radial bowing, Short femoral neck, Brachydactyly OMIM:602152
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Ptosis ORPHA:2522
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Ragged-red muscle fibers, Ptosis OMIM:614924
Non-Functioning Pituitary Adenoma
Abnormal hair quantity, Pallor, Ptosis ORPHA:91349
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Epicanthus, Mitral valve prolapse, Macroglossia, Clinodactyly of the 5th finger, Downslanted palp... ORPHA:369950
Lacrimoauriculodentodigital Syndrome 1
Preaxial polydactyly, Radial deviation of the 3rd finger, Hyperextensible skin, Conjunctivitis, T... OMIM:149730
Skin Creases, Congenital Symmetric Circumferential, 2
Epicanthus, Tapered finger, Blepharophimosis, Long fingers, Synophrys, Low anterior hairline, 2-3... OMIM:616734
Joubert Syndrome 21
Apnea, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis, Ptosis OMIM:615636
Robinow Syndrome
High anterior hairline, Pulmonic stenosis, Coarctation of aorta ORPHA:97360
Ectodermal Dysplasia-Skin Fragility Syndrome
Recurrent pneumonia, Nail dystrophy, Scaling skin, Sparse hair, Alopecia universalis ORPHA:158668
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Dilatation of the ventricular cavity, Pulmonary artery stenosis, Hirsutism, Lower-limb joint cont... ORPHA:459070
Tukel Syndrome
Syndactyly, Ptosis, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone ap... OMIM:609428
Leprechaunism
Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Large hands, Hyperextensible skin, Facia... ORPHA:508
Myhre Syndrome
Ptosis, Skeletal muscle hypertrophy, Abnormal cardiac septum morphology, Short palm, Blepharophim... ORPHA:2588
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperextensible skin, Talipes equinovarus... OMIM:617821
Distal Deletion 3P
Epicanthus, Telecanthus, Blepharophimosis, Postaxial hand polydactyly, Clinodactyly of the 5th fi... ORPHA:1620
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Limb muscle weakness, Facial palsy, Ptosis OMIM:610131
Plague
Respiratory distress, Hepatomegaly, Splenomegaly, Endocarditis, Skin ulcer, Acute infectious pneu... ORPHA:707
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Short middle phalanx of the 2nd finger, Cone... OMIM:119600
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Short 4th metacarpal, Ptosis OMIM:606220
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Myasthenia, Limb-Girdle, Autoimmune
Ptosis, Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Prolactinoma
Abnormal hair quantity, Pallor, Ptosis ORPHA:2965
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Neonatal respiratory distress, High anterior hairline, Ptosis OMIM:615510
Orthostatic Hypotension 1
Ptosis, Weakness of facial musculature, Brachydactyly OMIM:223360
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Ptosis OMIM:607483
Cree Mental Retardation Syndrome
Cutaneous finger syndactyly, Downslanted palpebral fissures, Rocker bottom foot, Ptosis OMIM:606851
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:300661
Angelman Syndrome
Fair hair, Ptosis ORPHA:72
Myasthenia Gravis
Limb muscle weakness, Facial palsy, Ptosis OMIM:254200
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Skeletal muscle atrophy, Genu varum, Abnormal mitral valve morphology, Ptosis ORPHA:1969
Ring Chromosome 13 Syndrome
Aplasia/Hypoplasia of the thumb, Alopecia, Epicanthus, Aplasia/hypoplasia involving bones of the ... ORPHA:96176
Papillorenal Syndrome
Soft skin, Hyperextensible skin, Orbital cyst OMIM:120330
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Upper eyelid coloboma, Lower eyelid coloboma, Abn... OMIM:154500
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Eyelid coloboma, Abnormal toe... ORPHA:2211
Codas Syndrome
Short humerus, Short metacarpal, Metaphyseal dysplasia, Ventricular septal defect, Proximal place... OMIM:600373
Isolated Arrhinia
Respiratory distress, Eyelid coloboma ORPHA:1134
Mend Syndrome
Redundant neck skin, Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Upslanted p... OMIM:300960
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Recurrent respiratory infections, Atelectasis, Skin ulcer, Fine hair, Genu val... ORPHA:534
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Calcaneovalgus deformity, Flexion contracture, Abnormality of the pulmonar... ORPHA:261537
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Ptosis OMIM:615911
Mesomelia-Synostoses Syndrome
Ptosis, Telecanthus, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short m... OMIM:600383
Lathosterolosis
Hepatomegaly, Epicanthus, Toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly,... ORPHA:46059
Sympathetic Ophthalmia
Alopecia, Erythema, Poliosis ORPHA:79098
Woodhouse-Sakati Syndrome
Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Humeroradial synostosis, Hypoplasia of the... ORPHA:3404
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Calcaneovalgus deformity, Flexion contracture, Abnormality of the pulmonar... ORPHA:261552
Peters-Plus Syndrome
Facial hypertrichosis, Syndactyly, Short metacarpal, Atrial septal defect, Rhizomelia, Ventricula... OMIM:261540
Reni Syndrome
Ptosis OMIM:617575
Frontofacionasal Dysplasia
Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs... OMIM:229400
Neurofibromatosis-Noonan Syndrome
Epicanthus, Secundum atrial septal defect, Low posterior hairline, Pulmonic stenosis, Lisch nodul... OMIM:601321
Aniridia-Absent Patella Syndrome
Ptosis, Aplasia/Hypoplasia of the patella ORPHA:1069
Xia-Gibbs Syndrome
Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis OMIM:615829
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Levator palpebrae superioris atrophy, Hand oligodactyly, Congenital fibrosis of extr... ORPHA:45358
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Patchy alopecia, Hemiatrophy ORPHA:2874
Cerebrooculonasal Syndrome
Epicanthus, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Postaxial hand polydactyly, ... OMIM:605627
Insulin-Like Growth Factor I Deficiency
Clinodactyly of the 5th finger, Ptosis OMIM:608747
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Ptosis OMIM:615145
Alexander Disease
Facial palsy, Respiratory insufficiency, Ptosis ORPHA:58
Leopard Syndrome 1
Scapular winging, Epicanthus, Complete atrioventricular canal defect, Mitral valve prolapse, Pulm... OMIM:151100
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Fine hair OMIM:241080
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis ORPHA:91416
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Splenomegaly, Atelectasis, Recurrent pneumonia, Cough, Pleural effusion OMIM:306400
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Epicanthus, Pseudoepiphyses of the metacarpals, Ventricular septal defect,... OMIM:194190
Primrose Syndrome
Sparse scalp hair, Hip contracture, Skeletal muscle atrophy, Ptosis, Absent facial hair, Epicanth... OMIM:259050
Arima Syndrome
Hepatomegaly, Dyspnea, Postaxial hand polydactyly, Tachypnea, Postaxial foot polydactyly, Ptosis OMIM:243910
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Ragged-red muscle fibers, Rhabdomyolysis, Hypertrophic cardiomyopathy, Ptosis OMIM:124000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress OMIM:617156
African Trypanosomiasis
Hepatomegaly, Alopecia, Pericarditis, Myocarditis, Splenomegaly, Hepatosplenomegaly, Conjunctivitis ORPHA:3385
Floating-Harbor Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Coarctation of aorta ORPHA:2044
Neurofaciodigitorenal Syndrome
Epicanthus, Abnormal distal phalanx morphology of finger, Triphalangeal thumb, Abnormal metacarpa... ORPHA:2673
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal amyotrophy, Ragged-red muscle fibers, Ptosis OMIM:603041
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Epicanthus, Toe syndactyly, Short foot, Downslanted palpebral fissures, Short ... ORPHA:264200
Pituitary Apoplexy
Pallor, Ptosis ORPHA:95613
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ptosis OMIM:615453
Kallmann Syndrome
Breast hypoplasia, Ptosis ORPHA:478
Wagro Syndrome
Downslanted palpebral fissures, Ptosis OMIM:612469
Cerebral Creatine Deficiency Syndrome 1
Ptosis OMIM:300352
Faciocardiomelic Syndrome
Telecanthus, Polydactyly, Short eyelashes, Common atrium, Ptosis OMIM:612731
Miller Fisher Syndrome
Facial palsy, Ptosis ORPHA:98919
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... OMIM:130650
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation, Ptosis OMIM:610188
Branchiooculofacial Syndrome
Ptosis, Telecanthus, Facial palsy, Proximal placement of thumb, Supernumerary nipple, Short thumb... OMIM:113620
Tsh-Secreting Pituitary Adenoma
Abnormal hair quantity, Pericardial effusion, Pallor, Ptosis ORPHA:91347
Monosomy 22Q13.3
Epicanthus, Palpebral edema, Hypoplastic toenails, Large hands, Long eyelashes, Clinodactyly of t... ORPHA:48652
Pmm2-Cdg
Respiratory distress, Pericarditis, Multiple joint contractures, Epicanthus, Pericardial effusion... ORPHA:79318
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Ptosis OMIM:146500
Six2-Related Frontonasal Dysplasia
Epicanthus inversus, Ptosis ORPHA:488437
Ophthalmoplegia, Familial Static
Ptosis OMIM:165000
Systemic Lupus Erythematosus
Alopecia ORPHA:536
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Ptosis, Brachydactyly, Short palm ORPHA:3217
Behcet Syndrome
Erythema, Patchy alopecia OMIM:109650
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Epicanthus, Upslanted palpebral fissure, Epicanthus inversus, Short palpebral fissure... OMIM:618820
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Clubbing, Osteolytic defects of the phalanges of the h... OMIM:161700
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Clubbing of fingers, Ptosis OMIM:167100
Alström Syndrome
Respiratory distress, Hepatomegaly, Frontal balding, Chronic bronchitis, Splenomegaly, Short toe,... ORPHA:64
Pearson Syndrome
Hepatomegaly, Splenomegaly, Abnormal heart morphology, Cardiomyopathy, Ptosis ORPHA:699
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Ptosis OMIM:609037
Mowat-Wilson Syndrome
Pulmonary artery sling, Patent ductus arteriosus, Flexion contracture, Coarctation of aorta, Hori... ORPHA:2152
Holoprosencephaly 4
Ptosis OMIM:142946
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Ptosis, Epicanthus, Tapered finger, Genu valgum, Upslanted palpebral fissure, Macroglossia, Lower... OMIM:309580
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Epicanthus, Clinodactyly of th... ORPHA:1587
Visual Impairment And Progressive Phthisis Bulbi
Ptosis OMIM:618283
Hydrolethalus Syndrome 1
Omphalocele, Stillbirth, Agenesis of the diaphragm OMIM:236680
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Recurrent respiratory infections, Ptosis OMIM:614231
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Aniridia 1
Bilateral ptosis, Ptosis OMIM:106210
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Ptosis OMIM:146255
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ptosis OMIM:620303
Microphthalmia, Syndromic 1
Syndactyly, Bicuspid aortic valve, Pulmonary hypoplasia, Radial deviation of finger, Camptodactyl... OMIM:309800

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 Efemp2

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 Efemp2.

No publications found that use IMPC mice or data for Efemp2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Efemp2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Efemp2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Efemp2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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