Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

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.

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

Disease Similarity of
Matching phenotypes Source
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Familial Aortic Dissection
Aortic dissection, Paroxysmal dyspnea, Descending thoracic aorta aneurysm, Mucoid extracellular m... ORPHA:229
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis OMIM:604091
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Aortic Aneurysm, Familial Thoracic 7
Ascending aortic dissection, Descending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Ventricular arrhythmia, Vascular dilatation, Congestive heart failure, Im... OMIM:600884
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Aortic root aneurysm, Ventricular hypertrophy, Abnormal coronary arte... ORPHA:3400
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Coronary artery aneurysm, Abdominal aortic aneurysm, Ascending aortic... OMIM:615436
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex co... OMIM:611369
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic ... OMIM:185500
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Anomalous pulmonary venous ... ORPHA:2258
Loeys-Dietz Syndrome 4
Aortic dissection, Ascending tubular aorta aneurysm, Bicuspid aortic valve, Mitral valve prolapse... OMIM:614816
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Aneurysm Of Interventricular Septum
Vascular dilatation OMIM:105805
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... OMIM:132900
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Generalized arterial calcification, Coronary artery calcification, Myocardial infar... OMIM:208000
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Portal hypertension, Cerebral berry aneurysm, Emphysema OMIM:210050
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death, Coarctation of aorta, Patent ductus arteriosus, Bilate... OMIM:601612
Cap Myopathy
Abnormal muscle fiber morphology, Mitral valve prolapse, Aortic root aneurysm, Generalized amyotr... ORPHA:171881
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Atherosclerosis, Dilatation of the cerebral artery, Cutis laxa, Redundant skin ORPHA:91135
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Tendon rupture, Mitral valve prolapse, Absent phalangeal crease, Ptosis, Aortic ro... ORPHA:230851
Grange Syndrome
Hypertension, Aortic regurgitation, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Lmna-Related Cardiocutaneous Progeria Syndrome
Sparse hair, Mitral valve calcification, Aortic root aneurysm, Ventricular hypertrophy, Absent ey... ORPHA:363618
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Bronchopulmonary Dysplasia
Wheezing, Right ventricular failure, Central apnea, Hyperoxemia, Abnormal respiratory system phys... ORPHA:70589
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic dissection, Paroxysmal dyspnea, Descending thoracic aorta aneurysm, Abdominal aortic aneur... ORPHA:91387
Fibromuscular Dysplasia, Arterial
Aortic dissection, Renovascular hypertension, Arterial fibromuscular dysplasia, Intermittent clau... OMIM:135580
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Anomalous branches of internal carotid artery, Patent ductus arteriosus, C... ORPHA:363705
Telangiectasia, Hereditary Benign
Diffuse telangiectasia, Vascular dilatation OMIM:187260
Pancytopenia And Occlusive Vascular Disease
Peripheral arterial stenosis OMIM:167850
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Myocarditis, Aortic root aneurysm, Short palpebral fissure, Vascular dila... ORPHA:3342
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Ascending tubular aorta aneurysm, Abnormal pattern of ... ORPHA:3287
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Familial Cerebral Saccular Aneurysm
Aortic dissection, Abnormal circle of Willis morphology, Cerebral berry aneurysm, Aortic root ane... ORPHA:231160
Aortic Valve Disease 3
Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis OMIM:618496
Marfanoid Habitus With Situs Inversus
Mitral valve prolapse, Obstructive sleep apnea, Persistent left superior vena cava, Aortic root a... OMIM:609008
Sitosterolemia 2
Premature coronary artery atherosclerosis, Tendon xanthomatosis OMIM:618666
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Ascending tubular aorta aneurysm, Premature coronary artery atherosclerosis,... OMIM:611788
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... ORPHA:60033
Vein Of Galen Aneurysmal Malformation
Peripheral arteriovenous fistula, Vascular dilatation ORPHA:1053
Boudin-Mortier Syndrome
Pseudoepiphyses of the middle phalanges of the hand, Mitral valve prolapse, Aortic root aneurysm,... OMIM:619543
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Ehlers-Danlos Syndrome, Classic Type, 1
Mitral valve prolapse, Hyperextensibility of the finger joints, Aortic root aneurysm, Epicanthus,... OMIM:130000
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral artery atherosclerosis, Hypertension, Coronary artery atherosclerosis, Arterial stenosis ORPHA:1192
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Metatarsus adductus, Bicuspid aortic valve, Ventricular septal defect, Hip... OMIM:121050
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Supravalvular aortic stenosis, Congenital diaphragmatic hernia,... OMIM:219100
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Vascular dilatation, Respiratory insufficiency ORPHA:2924
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Cerebral berry aneurysm, Arterial fibromuscular dysplasia, Fu... OMIM:618734
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Patent ductus arteriosus ORPHA:99811
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta, Aortic valve stenosis OMIM:241550
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Neonatal Marfan Syndrome
Hypoxemia, Ascending tubular aorta aneurysm, Neonatal respiratory distress, Cutis laxa, Adducted ... ORPHA:284979
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent ductus arteriosus, Dermal tran... OMIM:617506
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Cough, Vasculitis, Pulmonary embolism... ORPHA:228116
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Single ventricle, Patent ductus arteriosus, Decre... ORPHA:95430
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Honeycomb lung, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Talipes equinovarus, Aortic root aneurysm, Arachnodactyly, Atrial sept... OMIM:301039
Classical-Like Ehlers-Danlos Syndrome Type 2
Keratoconjunctivitis sicca, Hallux valgus, Carotid artery stenosis, Mitral valve prolapse, Perica... ORPHA:536532
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Bicuspid aortic valve, Talipes equinovarus, Aortic root aneurysm, Spatulate thumbs... OMIM:245600
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Talipes equinovarus, Aortic root aneur... OMIM:610168
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Patent ductus arteriosus, Varicose veins, Distichiasis, Peripheral arterial st... OMIM:126320
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Vascular dilatation OMIM:225755
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Tatton-Brown-Rahman Syndrome
Widely spaced toes, Narrow palpebral fissure, Aortic root aneurysm, Patent ductus arteriosus, Atr... ORPHA:404443
Rin2 Syndrome
Hirsutism, Downslanted palpebral fissures, Aortic aneurysm, Hyperextensible skin, Upper eyelid ed... ORPHA:217335
X Small Rings
Toe syndactyly, Upper limb undergrowth, 2-3 toe syndactyly, Bicuspid aortic valve, Ventricular se... ORPHA:96201
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot OMIM:615779
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Mass Syndrome
Mitral valve prolapse, Striae distensae, Aortic aneurysm OMIM:604308
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular matrix accumulation... OMIM:130090
Coronary Arterial Fistula
Coronary artery aneurysm, Syncope, Systolic heart murmur, Continuous heart murmur, Tachypnea, Pal... ORPHA:2041
Immunodeficiency 49
Hirsutism, Cutis laxa, Upslanted palpebral fissure, Short palpebral fissure, Pulmonary artery ste... OMIM:617237
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of the pulmonary artery,... ORPHA:1166
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ptosis, Aortic root aneurysm, Upslanted palpebr... OMIM:610443
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ventricular septal defect, Dilatation of... ORPHA:99094
Zimmermann-Laband Syndrome 1
Hepatomegaly, Small nail, Hirsutism, Short distal phalanx of toe, Aortic root aneurysm, Cardiomyo... OMIM:135500
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Talipes equinovarus, Torticollis, Aortic root aneurysm, Dysplasia of the femoral h... ORPHA:536467
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse and thin eyebrow, Sparse h... ORPHA:2722
Arterial Tortuosity Syndrome
Cutis laxa, Congenital diaphragmatic hernia, Ventricular hypertrophy, Arachnodactyly, Aortic tort... OMIM:208050
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Respiratory insufficiency, Flexion contracture, Ptosis OMIM:616326
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Vascular dilatation, Dilatation of the ventricular... OMIM:609040
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Bicuspid aortic valve, Descending thoracic aorta aneurysm, Mitral valv... OMIM:609192
Autosomal Recessive Cutis Laxa Type 1
Abnormal systemic arterial morphology, Abnormal cardiac ventricular function, Respiratory insuffi... ORPHA:90349
Loeys-Dietz Syndrome 5
Decreased muscle mass, Ventricular septal defect, Flexion contracture of toe, Congenital finger f... OMIM:615582
Pleural Mesothelioma
Hepatomegaly, Obstruction of the superior vena cava, Abnormal respiratory system physiology, Coug... ORPHA:50251
Combined Oxidative Phosphorylation Deficiency 25
Vascular dilatation OMIM:616430
Myasthenic Syndrome, Congenital, 18
Respiratory insufficiency, Flexion contracture, Ptosis OMIM:616330
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Death in infancy, Desquamative interstitial pneumonitis, Nonspecif... OMIM:610921
Familial Atrial Myxoma
Tricuspid regurgitation, Exertional dyspnea, Vascular dilatation, Congestive heart failure, Dilat... ORPHA:615
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Fine hair, Generalized limb muscle atrophy, Aortic root aneurysm, Brittle hair, Atrial septal def... OMIM:618891
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Facial palsy, Elevated ... OMIM:612387
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Vascular Hyalinosis
Vascular dilatation, Subarachnoid hemorrhage, Premature graying of hair, Hematochezia OMIM:277175
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema ORPHA:1164
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Dyspnea, Cough, Dilatation of the sinus of Valsalva ORPHA:1054
Opitz Gbbb Syndrome
Ventricular septal defect, Stridor, Recurrent aspiration pneumonia, Ptosis, Persistent left super... ORPHA:2745
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Abdominal aortic aneurysm, Aortic root aneurysm, Aortic arch aneurysm, Cor... OMIM:617168
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Brachydactyly, Sleep apnea, Hypoplastic toenails,... ORPHA:444077
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa, Abnormal heart morphology, Congenital diaphragmatic hernia, Arachnodactyly, Emphysema OMIM:614100
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Cerebral ischemia, Transient ischemic... ORPHA:136
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse, Arachnodactyly, Aortic tortuosity, Ascending aortic dissection, Thoracic a... OMIM:616166
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Atherosclerosis, Cutis laxa OMIM:610842
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ventricular septal defect, Bacterial end... ORPHA:3092
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Hypoxemia, Abnormal aortic arch morphology, Ventricular septal defect, H... ORPHA:860
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Tricuspid Atresia
Persistent left superior vena cava, Transposition of the great arteries, Coarctation of aorta, Pu... ORPHA:1209
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Arachnodactyly, Abnormal heart valve morphology, Flexion contrac... ORPHA:171719
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse eyelashes, Skeletal muscle atrophy, Cutis laxa, Telecanthus, Sparse scalp hair, Arachnodac... ORPHA:75496
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Ectropion, Sparse eyebrow, ... ORPHA:2269
Marfanoid-Progeroid-Lipodystrophy Syndrome
Keratoconjunctivitis sicca, Mitral valve prolapse, Aortic root aneurysm, Long fingers, Arachnodac... OMIM:616914
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Myocardial steatosis, Premature coronary artery atherosclerosis, Abnorm... ORPHA:391665
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Abnormal aortic morphology, Arrhythmia, Cardiomyopathy ORPHA:3222
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Short 5th metacarpal, Pseudocoarctation of the aorta, Patent ductus arteri... ORPHA:228190
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Abnormal lung mor... ORPHA:185
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Raynaud phenomenon, Vascular di... OMIM:611773
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Immunodeficiency 23
Allergic rhinitis, Bronchiectasis, Aortic root aneurysm, Erythema, Vasculitis in the skin, Asthma... OMIM:615816
Ogden Syndrome
Fine hair, Ventricular septal defect, Cutis laxa, Torticollis, Downslanted palpebral fissures, Br... ORPHA:276432
Peroxisome Biogenesis Disorder 3A (Zellweger)
Vascular dilatation OMIM:614859
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Premature coronary artery atherosclerosis, Hypertension, Congestive heart ... OMIM:615703
Hypocomplementemic Urticarial Vasculitis
Restrictive ventilatory defect, Cough, Small vessel vasculitis, Dyspnea, Airway obstruction, Emph... ORPHA:36412
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm OMIM:614823
Weaver Syndrome
Fine hair, Talipes equinovarus, Large hands, Abnormal fingernail morphology, Thin nail, Abnormali... ORPHA:3447
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent ductus arteriosus, Fair hair, ... ORPHA:280633
Atrial Standstill 2
Atrial standstill, Palpitations, Bradycardia, Cardiomyopathy, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Type 2 muscle fi... OMIM:254210
Viss Syndrome
Left aortic arch with retroesophageal right subclavian artery, Hirsutism, Talipes equinovarus, To... OMIM:619472
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectio... ORPHA:264675
Moyamoya Disease 1
Telangiectasia, Carotid artery occlusion, Inflammatory arteriopathy OMIM:252350
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Ptosis, Respiratory insufficiency due to muscle weakness, Facia... OMIM:300580
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Talipes equinovarus, Tortuous cerebral arteries, Aortic tortuosity, Patent... OMIM:613795
Myofibrillar Myopathy 11
Z-band streaming, Coarctation of aorta, Generalized amyotrophy, Shoulder girdle muscle atrophy, E... OMIM:619178
Temtamy Syndrome
Genu varum, Telecanthus, Aortic aneurysm, Short toe, Clinodactyly of the 5th finger, Brachydactyly ORPHA:1777
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Aortic an... OMIM:614980
Rafiq Syndrome
Highly arched eyebrow, Broad eyebrow, Cutis laxa, Sparse lateral eyebrow, Sparse eyebrow, Downsla... OMIM:614202
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ventricular arrhythmia, Coarctation of aorta, Pulmonary artery hypoplasia... OMIM:613426
Phace Association
Coarctation of aorta, Anomalous branches of internal carotid artery, Patent ductus arteriosus, Ao... OMIM:606519
Congenital Heart Defects, Multiple Types, 7
Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arteries, Tetralogy of Fallot, Do... OMIM:618780
Marfan Syndrome
Aortic dissection, Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Decreased muscl... OMIM:154700
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Ptosis, Double outlet right ventricle, Abnormal heart morphology, ... OMIM:618164
Phace Syndrome
Abnormality of the orbital region, Ptosis, Aortic root aneurysm, Abnormal heart morphology, Coarc... ORPHA:42775
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Abnormal aortic arch morphology, Pulmonary hypoplasia, Abnormal descending a... ORPHA:99050
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypertension, Abnormal aortic morphology, Tachypnea, Pulmonary arterial hypertension, Patent duct... OMIM:613834
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Myasthenic Syndrome, Congenital, 8
Facial palsy, Respiratory insufficiency, Ptosis OMIM:615120
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Type 2... OMIM:605809
Parc Syndrome
Alopecia, Absent eyebrow, Absent eyelashes OMIM:600331
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Transposition of the great arteries, Coarctation of aorta, Truncus arteriosus, Patent ductus arte... OMIM:612474
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Short 5th metacarpal, Short finger, Pseudocoarctation of the aorta, Patent... OMIM:604381
Keutel Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Alopecia, Soft, doughy skin, Short di... ORPHA:85202
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Narrow palpebral fissure, Pulmonary artery dilatation, Cutis laxa, Art... OMIM:614437
6P22 Microdeletion Syndrome
Epicanthus, Clinodactyly, Patent ductus arteriosus, Finger syndactyly, Redundant skin ORPHA:251046
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation OMIM:226100
Perching Syndrome
Respiratory distress, Flexion contracture, Camptodactyly OMIM:617055
Igg4-Related Aortitis
Aortic dissection, Ascending tubular aorta aneurysm, Abnormal aortic arch morphology, Thoracic ao... ORPHA:449400
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Precocious atherosclerosis, Alopecia, Myocardial infar... OMIM:176670
Ogden Syndrome
Fine hair, Ventricular septal defect, Cutis laxa, Palpebral thickening, Facial wrinkling, Long ey... OMIM:300855
Myasthenic Syndrome, Congenital, 15
Multiple joint contractures, Ptosis OMIM:616227
Thanatophoric Dysplasia
Respiratory insufficiency, Abnormality of the metaphysis, Patent ductus arteriosus, Downslanted p... ORPHA:2655
Cleft Palate, Cardiac Defects, And Mental Retardation
Highly arched eyebrow, 2-3 toe syndactyly, Laterally extended eyebrow, Ventricular septal defect,... OMIM:600987
Progeroid Syndrome, Petty Type
Long eyelashes in irregular rows, Abnormal hair morphology, Cutis laxa, Brittle hair, Epicanthus,... ORPHA:2963
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary hypoplasia, Emphysema, Vascular dilatation, Pulmonary artery stenosis, Tracheomalacia OMIM:613177
Cranioectodermal Dysplasia 3
Fine hair, Short nail, Broad nail, Cutis laxa, Peripheral pulmonary artery stenosis, Postaxial po... OMIM:614099
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Crackles, Systolic hea... ORPHA:99095
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Sparse hair, Ptosis, Knee flexion contracture, Thick... OMIM:606242
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Coronary artery atherosclerosis ORPHA:79084
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Emphysema, Mitral regurgitation OMIM:123700
De Barsy Syndrome
Decreased muscle mass, Ventricular septal defect, Cutis laxa, Adducted thumb, Talipes equinovarus... ORPHA:2962
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm, Mitral valve prolapse ORPHA:449291
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Glycogen Storage Disease Due To Acid Maltase Deficiency
Thoracic aortic aneurysm, Exertional dyspnea, Basilar artery calcification, Vasculitis, Sleep apn... ORPHA:365
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Macs Syndrome
Cutis laxa, Bronchiectasis, Alopecia, Downslanted palpebral fissures, Palpebral edema, Hyperexten... OMIM:613075
Wyburn-Mason Syndrome
Cerebral hemorrhage, Epistaxis, Vascular dilatation, Subarachnoid hemorrhage, Peripheral arteriov... ORPHA:53719
Waardenburg Syndrome Type 2
Ptosis, Telecanthus, White forelock, Abnormality of the pulmonary artery, Hypopigmentation of hai... ORPHA:895
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Fine hair, Cutis laxa, Epicanthus, Sandal gap, Syndactyly, Thick eyebrow, Micromelia, Brachydactyly OMIM:614800
Non-Specific Syndromic Intellectual Disability
Highly arched eyebrow, Pulmonary artery dilatation, Blepharophimosis, Ptosis, Broad thumb, Aortic... ORPHA:528084
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Arteriosclerosis of small cerebral arteries, Alopecia OMIM:600142
Aneurysm-Osteoarthritis Syndrome
Aortic dissection, Abdominal aortic aneurysm, Dilatation of the sinus of Valsalva, Arterial tortu... ORPHA:284984
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Premature coronary artery atherosclerosis, Angina pectoris ORPHA:140905
Accelerated atherosclerosis, Type IV atherosclerotic lesion, Premature coronary artery atheroscle... ORPHA:412
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Upper airway obstruction, Respiratory distress, Dyspnea, Aspiratio... ORPHA:141152
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Alopecia, Facial palsy, Absent eyebrow, Patent ductus arteriosus, Abse... OMIM:147770
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Hip contracture, Rocker bottom foot, Abnormal... ORPHA:1143
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Vascular dilatation, Patent ductus arteriosus OMIM:220220
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair OMIM:212835
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Epicanthus, Abnormal hair pattern, Downslanted pal... ORPHA:1807
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Oliver-Mcfarlane Syndrome
Alopecia, Long eyelashes, Distal amyotrophy, Sparse hair, Long eyebrows OMIM:275400
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Recurrent bronchitis, Vasculitis, Restrictive ventilatory defect, Recu... ORPHA:1572
Partial Atrioventricular Septal Defect
Syncope, Mitral regurgitation, Angina pectoris, Palpitations, Double outlet right ventricle, Hear... ORPHA:1330
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Retinal hemorrhage, Medial calcification of medium-sized arteries, Arteriosc... OMIM:177850
Myasthenic Syndrome, Congenital, 23, Presynaptic
Calf muscle hypertrophy, Ptosis OMIM:618197
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Upper limb undergrowth, Hepatomegaly, Small hand, Downslanted palpebra... OMIM:608799
Autosomal Dominant Polycystic Kidney Disease
Abnormal systemic arterial morphology, Mitral valve prolapse, Aortic root aneurysm, Dilatation of... ORPHA:730
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D... ORPHA:3361
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Tangier Disease
Facial diplegia, Nail dystrophy, Left ventricular hypertrophy, Myocardial infarction, Distal amyo... OMIM:205400
Pseudoxanthoma Elasticum
Hypertension, Angina pectoris, Restrictive cardiomyopathy, Telangiectasia of the skin, Gastrointe... ORPHA:758
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Upslanted palpebral fissure, Brittle hair, Alopecia, Nail dystrophy, C... ORPHA:75389
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Total anomalous pulmonary venous return, Coarctation of aorta, Hyp... OMIM:613854
Heterotaxy, Visceral, 4, Autosomal
Right aortic arch, Ventricular septal defect, Atrioventricular canal defect, Dextrocardia OMIM:613751
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Congenital diaphragmatic hernia, Coarctation of aorta, Patent ductus arteriosus... ORPHA:1120
Lipodystrophy, Familial Partial, Type 1
Hypertension, Coronary artery atherosclerosis, Prominent superficial veins OMIM:608600
Gastritis, Familial Giant Hypertrophic
Vascular dilatation OMIM:137280
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Talipes equinovarus, Facial palsy, Respiratory failure, Respiratory di... OMIM:614399
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Autosomal Recessive Multiple Pterygium Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Neonatal respiratory distress, Symphalangis... ORPHA:2990
Ehlers-Danlos Syndrome, Vascular Type
Carotid cavernous fistula, Alopecia of scalp, Pneumothorax, Pulmonary bleb, Arterial rupture, Pul... OMIM:130050
Gaucher Disease Type 2
Hepatomegaly, Abnormal pattern of respiration, Cough, Splenomegaly, Respiratory distress, Flexion... ORPHA:77260
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip contracture, Knee flexion contracture, Vascular dilatation, Flexion contracture, Elbow flexio... OMIM:616809
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Abnormal lung lobation ORPHA:2516
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Cerebral hemorrhage, Hypertension, Ischemic stroke, ... ORPHA:280679
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Foam cells with lamellar inclusion bodies, Re... OMIM:607616
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth OMIM:274210
Autosomal Dominant Cutis Laxa
Redundant neck skin, Cutis laxa, Adducted thumb, Peripheral pulmonary artery stenosis, Bronchiect... ORPHA:90348
Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Metaphyseal dysplasia, Talipes equinovarus, Dysplasia of the femoral head, Restric... ORPHA:536471
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Ptosis, Epicanth... OMIM:615355
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema OMIM:604571
Flynn-Aird Syndrome
Skin ulcer, Alopecia, Atherosclerosis, Skeletal muscle atrophy ORPHA:2047
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Abnormality of the metaphysis, Patent... ORPHA:93274
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Ptosis OMIM:614750
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cough, Card... ORPHA:86812
Oculomotor-Levator Synkinesis
Abnormal eyelid morphology, Eyelid retraction, Ptosis OMIM:151610
Ciliary Dyskinesia, Primary, 37
Wheezing, Dextrocardia, Bronchiectasis, Chronic rhinitis, Situs inversus totalis, Rhinorrhea, Rig... OMIM:617577
Ehlers-Danlos Syndrome, Classic Type, 2
Talipes equinovarus, Epicanthus, Soft, doughy skin, Hyperextensible skin, Soft skin, Recurrent si... OMIM:130010
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Myopathy, Skeletal muscle atrophy, Respiratory insufficiency, Weakness of facial musculature, Bil... ORPHA:254875
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Cockayne Syndrome Type 3
Keratoconjunctivitis sicca, Hepatomegaly, Skeletal muscle atrophy, Dry hair, Aortic root aneurysm... ORPHA:90324
Fanconi Renotubular Syndrome 5
Hypertension, Lung adenocarcinoma, Decreased DLCO, Pulmonary fibrosis, Emphysema OMIM:618913
Myopathy And Diabetes Mellitus
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... ORPHA:2596
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Triphalangeal thumb, Radioulnar synostosis, Ulna... ORPHA:2876
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail, Short finger, Tapered finger OMIM:302000
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Thumb Deformity And Alopecia
Short thumb, Alopecia OMIM:188150
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot ORPHA:261243
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Respiratory insufficiency, Weakness of facial musculature, Internally nucleated skeletal muscle f... OMIM:618654
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Redundant skin, Cutis laxa, Increased number of skin folds ORPHA:436274
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, 2-3 toe syndactyly, Ventricular septal defect, Talipes equinovarus, Persis... ORPHA:477817
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Aorta Coarctation
Hypertension, Coarctation of the descending aortic arch, Persistent left superior vena cava, Pulm... ORPHA:1457
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Li-Campeau Syndrome
Ventricular septal defect, Hypertrichosis, Ptosis, Telecanthus, Downslanted palpebral fissures, P... OMIM:619189
Candidiasis, Familial, 1
Alopecia OMIM:114580
Meacham Syndrome
Death in infancy, Persistent left superior vena cava, Neonatal death, Coarctation of aorta, Aplas... OMIM:608978
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Decreased muscle mass, Redundant neck skin, Cutis laxa, Excessive wrinkled skin, Coarse hair, Pro... ORPHA:357074
2-3 toe syndactyly, Cutis laxa, Long eyelashes, Sparse eyebrow, Epicanthus, Downslanted palpebral... ORPHA:397941
Marfan Syndrome
Dilatation of an abdominal artery, Ascending tubular aorta aneurysm, Pulmonary artery dilatation,... ORPHA:558
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Chronic pulmona... ORPHA:439232
Deafness, X-Linked 7
Telecanthus, Thick eyebrow, Ptosis OMIM:301018
Pseudoxanthoma Elasticum
Hypertension, Accelerated atherosclerosis, Retinal hemorrhage, Renovascular hypertension, Restric... OMIM:264800
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Noonan Syndrome 9
Ventricular septal defect, Ptosis, Coarctation of aorta, Sparse eyebrow, Downslanted palpebral fi... OMIM:616559
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Redundant skin OMIM:301021
Fragile X Syndrome
Sinusitis, Ascending tubular aorta aneurysm, Mitral valve prolapse ORPHA:908
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Palmoplantar cutis... OMIM:616564
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Coarctation of aorta OMIM:301022
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Finger syndact... ORPHA:2251
Congenital Contractural Arachnodactyly
Mitral valve prolapse, Arthrogryposis multiplex congenita, Arachnodactyly, Aortic aneurysm, Flexi... ORPHA:115
Sparse eyelashes, Dry hair, Dry skin, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Spa... OMIM:190360
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Hirsutism, Flexion contracture OMIM:618006
Menkes Disease
Metaphyseal widening, Sparse hair, Cutis laxa, Metaphyseal spurs OMIM:309400
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Truncus arteriosus, Transposition of the gre... OMIM:217095
Hadziselimovic Syndrome
Ventricular septal defect, Low anterior hairline, Ptosis, Ventricular hypertrophy, Epicanthus, At... OMIM:612946
Osteogenesis Imperfecta
Aortic dissection, Neonatal respiratory distress, Abnormality of femur morphology, Diaphyseal thi... ORPHA:666
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vascular dilatation OMIM:617219
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Excessive wrinkled skin, Curly eyelashes, Alopecia, Abnormal hair pattern,... ORPHA:3051
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Mitral valve prolapse, Thin eyebrow, Bilateral ptosis, Hyperextensible skin, Low p... OMIM:618000
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
L-Ferritin Deficiency
Alopecia OMIM:615604
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Increased variability i... ORPHA:238329
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Congenital alopecia totalis, Nail pits ORPHA:169095
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Giant Cell Arteritis
Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Double outlet right ventricle with su... ORPHA:397
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Cutis laxa, Excessive wrinkled skin, Dermal translucency, Sparse hair, Blepharophimosi... OMIM:614438
Transaldolase Deficiency
Telangiectasia, Coarctation of aorta, Abnormal respiratory system physiology ORPHA:101028
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Myopathy, Increased muscle lipid content, Ragged-red muscle fibers, Macroglossia, R... ORPHA:254864
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Redundant skin, Downslanted palpebral fissures, Prominent superficial v... OMIM:612940
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Temtamy Syndrome
Highly arched eyebrow, Short 2nd toe, Talipes equinovarus, Downslanted palpebral fissures, Aortic... OMIM:218340
Alopecia-Intellectual Disability Syndrome
Alopecia, Split hand, Flexion contracture, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:2850
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Agel Amyloidosis
Keratoconjunctivitis sicca, Cutis laxa, Bilateral ptosis, Nail dystrophy, Facial palsy, Cardiomyo... ORPHA:85448
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Upslanted palpebral fissure, Alopecia, Short palpebral fissure, Broad thumb, Sparse hair, Brachyd... OMIM:617763
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Classical Ehlers-Danlos Syndrome
Arteriovenous fistula, Ecchymosis, Mitral valve prolapse, Talipes equinovarus, Dermatochalasis, A... ORPHA:287
Char Syndrome
Highly arched eyebrow, Ptosis, Patent ductus arteriosus, Thick eyebrow, Distal/middle symphalangi... OMIM:169100
Mucopolysaccharidosis-Plus Syndrome
Hirsutism, Telecanthus, Patent ductus arteriosus, Splenomegaly, Low posterior hairline, Recurrent... OMIM:617303
Blepharonasofacial Malformation Syndrome
Sparse lateral eyebrow, Telecanthus, Epicanthus, Finger syndactyly, Redundant skin, Low posterior... ORPHA:1252
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Ptosis, Postaxial polydactyly,... OMIM:603387
Costello Syndrome
Hypoplastic toenails, Hypertrophic cardiomyopathy, Ventricular septal defect, Abnormal hair morph... ORPHA:3071
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Keutel Syndrome
Sinusitis, Hypertension, Peripheral pulmonary artery stenosis, Recurrent bronchitis, Chronic sinu... OMIM:245150
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... ORPHA:3384
Familial Thrombocytosis
Syncope, Pulmonary arterial hypertension, Cerebral ischemia, Transient ischemic attack, Periphera... ORPHA:71493
Kerion Celsi
Alopecia ORPHA:499
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Alopecia, Woolly scalp hair, Woolly hair OMIM:601217
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Decreased muscle mass, Narrow palpebral fissure, Hyperextensible skin, Excessive skin wrinkling o... OMIM:608763
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia, Redundant skin OMIM:615721
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Pyoderma gangrenosum, Recurrent sinopulmonary infe... OMIM:616576
Pili Torti-Onychodysplasia Syndrome
Conjunctival hyperemia, Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes,... ORPHA:2890
C Syndrome
Toe syndactyly, Ventricular septal defect, Hepatomegaly, Cutis laxa, Ulnar deviation of finger, L... OMIM:211750
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Fine hair, Patent ductus arteriosus, Recurrent respiratory infections, Vascular dilatation, Arter... ORPHA:2637
Anauxetic Dysplasia 3
Broad eyebrow, Femoral bowing, Short middle phalanx of finger, Small nail, Cutis laxa, Genu valgu... OMIM:618853
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cutis laxa, Talipes equinovarus, Carpal synostosis, Advanced ossification of carpal bones, Hypere... OMIM:615349
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Hypertension, Pulmonary arterial hypertension, Vascular dilatation OMIM:613320
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation OMIM:617056
Noonan Syndrome 2
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Ptosis, Atrioven... OMIM:605275
Arthrogryposis, Distal, Type 7
Metatarsus adductus, Distal arthrogryposis, Talipes equinovarus, Hammertoe, Ptosis, Arthrogryposi... OMIM:158300
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Hypertension, Accelerated atherosclerosis, Coronary artery atherosclerosis OMIM:618620
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Netherton Syndrome
Fine hair, Sparse eyelashes, Abnormal hair morphology, Sparse scalp hair, Trichorrhexis nodosa, A... ORPHA:634
Chromosome 18Q Deletion Syndrome
Toe syndactyly, Ascending tubular aorta aneurysm, Ventricular septal defect, Talipes equinovarus,... OMIM:601808
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hirsutism, Spontaneous neonatal pneumothorax, Limb undergrowth, Epicanthus, Downslanted palpebral... OMIM:225410
Classic Mycosis Fungoides
Hepatomegaly, Erythema, Alopecia, Abnormal eyelid morphology, Splenomegaly, Abnormality of the na... ORPHA:2584
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Weaver Syndrome
Talipes equinovarus, Joint contracture of the hand, Deep-set nails, Diastasis recti, Camptodactyl... OMIM:277590
Apolipoprotein A-I Deficiency
Premature coronary artery atherosclerosis, Atherosclerosis, Angina pectoris ORPHA:425
Emphysema, Respiratory insufficiency ORPHA:436
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Epicanthus, Redundant skin ORPHA:1779
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Nail dysplasia, Facial erythema, Camptodactyly of finger, Dry skin OMIM:212360
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Excessive wrinkled skin, Bowing of th... ORPHA:1860
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Fine hair, Dystrophic fingernails, Ciliary dyskinesia, Dystrophic toenail, Sparse and thin eyebro... ORPHA:1882
Congenital Aortic Valve Stenosis
Endocarditis, Dysplastic aortic valve, Endocardial fibroelastosis, Aortic valve calcification, Le... ORPHA:3093
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Inguinal hernia ORPHA:36
Rhizomelic Chondrodysplasia Punctata, Type 1
Respiratory insufficiency, Upslanted palpebral fissure, Rhizomelia, Alopecia, Flexion contracture... OMIM:215100
Recombinant 8 Syndrome
Ventricular septal defect, Abnormal hair morphology, Patellar aplasia, Patent ductus arteriosus, ... ORPHA:96167
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Tetralogy of Fallot, Patent d... ORPHA:2847
Ectodermal Dysplasia-Syndactyly Syndrome 1
Cutaneous finger syndactyly, Sparse eyelashes, Small nail, Sparse and thin eyebrow, Coarse hair, ... OMIM:613573
Marfanoid Hypermobility Syndrome
Aortic regurgitation, Mitral regurgitation, Aortic aneurysm OMIM:154750
Johnson Neuroectodermal Syndrome
Alopecia, Facial palsy, Absent eyebrow, Absent eyelashes, Downslanted palpebral fissures, Tetralo... ORPHA:2316
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Congenital Myopathy With Myasthenic-Like Onset
Myopathy, Minicore myopathy, Ptosis, Respiratory insufficiency due to muscle weakness, Scapular w... ORPHA:424107
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Aortic dissection, Decreased muscle mass, Mitral valve prolapse, Abnormal venous morphology, Limb... ORPHA:1900
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Metaphyseal widening, Curly eyelashes, Long eyelashe... OMIM:239850
Dural Sinus Malformation
Arteriovenous fistula, Cerebral hemorrhage, Carotid cavernous fistula, Intracranial hemorrhage, S... ORPHA:97339
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta, Skeletal muscle atrophy, Pulmonic stenosis OMIM:614300
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Cutaneous finger syndactyly, Alopecia, Telecanthus, Short middle phalanx of the 5th finger, Flexi... OMIM:203550
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cutis laxa, Cardiomyopathy OMIM:105120
2p15-16.1 microdeletion syndrome
Telecanthus, Downslanted palpebral fissures, Camptodactyly of finger, Ptosis DECIPHER:70
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Bilateral ptosis, A... ORPHA:254361
Grange Syndrome
Carotid artery stenosis, Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension OMIM:602531
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Myopathy, Respiratory insufficiency, Ptosis OMIM:616321
Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Gastrointestinal hemorrhage, Restrictive ven... ORPHA:538
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Skeletal muscle atrophy, Flexion contracture OMIM:612079
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Bicuspid aortic valve, Aortic root aneurysm, Patent ductus arteriosus, Ca... OMIM:607872
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... OMIM:129500
Scarf Syndrome
Hypoplastic nipples, Cutis laxa, Ptosis, Epicanthus, Downslanted palpebral fissures, Diastasis re... ORPHA:3134
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Obstructive sleep apnea, Ptosis, Facial palsy, Generalized amyotrophy, Exertional dyspnea, Limb-g... OMIM:615156
Spinal Muscular Atrophy, X-Linked 2
Myopathy, Respiratory insufficiency, Ptosis, Respiratory insufficiency due to muscle weakness, Fa... OMIM:301830
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Vascular dilatation, Camptodactyly OMIM:618343
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Respiratory insufficiency, Ptosis OMIM:616323
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Obstruction of the superior vena cava, Alopecia, Recurrent lower respiratory tract ... OMIM:615559
Mental Retardation, Autosomal Dominant 21
Coarctation of aorta, Epicanthus, Long eyelashes, Patent ductus arteriosus, Atrial septal defect OMIM:615502
Chromosome 6Q24-Q25 Deletion Syndrome
Sparse eyelashes, Right ventricular dilatation, Dysplastic tricuspid valve, Mitral valve prolapse... OMIM:612863
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Cutis laxa, Mitral valve prolapse, Ptosis, Short chordae tendineae of the ... OMIM:314400
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Redundant neck skin, Pulmonary arterial hypertension, Epicanthus, Pate... ORPHA:2519
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
2-3 toe syndactyly, Ptosis, Epicanthus, Horizontal eyebrow, Clinodactyly OMIM:619311
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Upslanted palpebral fissure, Telecanthus, Epicanthus, P... OMIM:601927
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Hypoplastic nipples, Patent ductus arteriosus, Short palpebral fissure, De... OMIM:612289
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Cerebral artery atherosclerosis, Renal artery stenosis, Coronary artery atherosclerosis OMIM:209010
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Cough, Decreased DLCO, Pulm... OMIM:234810
Microphthalmia, Syndromic 9
Truncus arteriosus, Congenital diaphragmatic hernia, Coarctation of aorta, Right aortic arch with... OMIM:601186
Frontonasal Dysplasia 1
Ptosis, Epicanthus, Joint contracture of the hand, Radial deviation of finger, Tetralogy of Fallo... OMIM:136760
Visceral Myopathy, Familial, With External Ophthalmoplegia
Vascular dilatation OMIM:277320
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Arteriovenous malformation, Pulmonary arterial hypertension,... ORPHA:974
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Redundant neck skin, Hypoplastic nipples, Prominent calcaneus, Short palp... ORPHA:96334
Cheilitis Glandularis
Vascular dilatation OMIM:118330
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
2-3 toe syndactyly, Persistent left superior vena cava, Double outlet right ventricle, Downslante... ORPHA:3304
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Redundant neck skin, Ptosis, Telecanthus, Proximal placement of th... OMIM:217980
20Q13.33 Microdeletion Syndrome
Short lower limbs, Highly arched eyebrow, Hallux valgus, Abnormal cardiac ventricle morphology, T... ORPHA:261311
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Sparse eyelashes, Alopecia, Telecanthus, Preaxial polydactyly, Complete duplication of the 1st me... OMIM:129540
Cardiomegaly OMIM:227150
Timothy Syndrome
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Syndactyly, Tetralo... OMIM:601005
Erythrokeratodermia Variabilis
Abnormal hair morphology, Tapered finger, Alopecia, Erythema, Generalized hirsutism, Abnormality ... ORPHA:317
Caroli Disease, Isolated
Portal hypertension, Vascular dilatation OMIM:600643
Triglyceride Deposit Cardiomyovasculopathy
Renal artery atherosclerosis, Increased muscle lipid content, Coronary artery stenosis, Skeletal ... ORPHA:565612
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myopathy, Obstructive sleep apnea, Congenital ptosis, Exertional dyspnea, Multiple joint contract... ORPHA:352470
Parkes Weber Syndrome
Arteriovenous fistula, Muscle hypertrophy of the lower extremities, Abnormal lymphatic vessel mor... ORPHA:90307
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Arter... OMIM:178600
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Hypertension, S... ORPHA:79083
Hypercholesterolemia, Familial, 1
Tendon xanthomatosis, Coronary artery atherosclerosis OMIM:143890
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Shprintzen-Goldberg Craniosynostosis Syndrome
Metatarsus adductus, Mitral valve prolapse, Obstructive sleep apnea, Talipes equinovarus, Ptosis,... OMIM:182212
Myasthenic Syndrome, Congenital, 17
Ptosis OMIM:616304
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Sparse eyelashes, Nail dystrophy, Pulmonary arterial hypertension, Alope... OMIM:614008
Autosomal Dominant Hyper-Ige Syndrome
Abnormal hair morphology, Dystrophic fingernails, Cough, Vascular dilatation, Recurrent respirato... ORPHA:2314
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Thoracoabdominal Syndrome
Omphalocele, Congenital diaphragmatic hernia, Patent ductus arteriosus, Transposition of the grea... OMIM:313850
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Abnormal heart morphology, Hypopigmentation of hair, Alopecia, Ptosis ORPHA:1067
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Cardiofaciocutaneous Syndrome
Abnormality of the ulna, Brittle hair, Low posterior hairline, Sparse hair, Abnormal eyelash morp... ORPHA:1340
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Congenital diaphragmatic hernia, Patent ductus arteriosus, Transposit... ORPHA:251071
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Pneumonia, Respiratory distress, Type 1 fibers relatively smaller... ORPHA:596
Cutis Laxa, Autosomal Recessive, Type Iia
Cutis laxa, Brittle hair, Coarse hair, Downslanted palpebral fissures, Abnormality of hair textur... OMIM:219200
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Hirsutism, Hip contracture, Mitral atresia, Apnea, Telecanthus, Sl... OMIM:619503
Granulomatous Slack Skin
Erythema, Cutis laxa, Redundant skin ORPHA:33111
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse eyelashes, Talipes equinovarus, Patent ductus arteriosus, Aplastic/hypoplastic toenail, Hi... OMIM:619293
Oculopharyngeal Muscular Dystrophy
Progressive ptosis, Facial palsy, Limb muscle weakness OMIM:164300
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Distal arthrogryposis, Ankle flexion contracture, Hip contracture, Talipes equinovarus, Ptosis, A... OMIM:617468
Scarf Syndrome
Hypoplastic nipples, Cutis laxa, Low anterior hairline, Ptosis, Epicanthus, Downslanted palpebral... OMIM:312830
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Cutis laxa OMIM:301045
Senior-Loken Syndrome 8
Vascular dilatation OMIM:616307
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle... ORPHA:2348
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Aldh18A1-Related De Barsy Syndrome
Hyperextensible skin ORPHA:35664
Telangiectasia, Hereditary Hemorrhagic, Type 4
Dilatation of celiac artery, Cerebral hemorrhage, Lip telangiectasia, Ischemic stroke, Spinal art... OMIM:610655
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Talipes equinovarus, Rocker bottom foot, Facial diplegia, Hand clenching... OMIM:611890
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Myopathy, Cardiomyopathy ORPHA:26792
Synaptic Congenital Myasthenic Syndromes
Myopathy, Neonatal respiratory distress, Hand muscle weakness, Respiratory insufficiency, Skeleta... ORPHA:98915
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Fatty replacement of ... ORPHA:171706
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, Ptosis, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Skeletal muscle atrophy, Alopecia, Nail dysplasia, Pulmonary fibrosis OMIM:615704
Hypertrichosis Cubiti
Ptosis, Rhizomelia, Downslanted palpebral fissures, Abnormal eyelid morphology, Thick eyebrow, Ge... ORPHA:2220
Cranioectodermal Dysplasia 2
Sparse eyelashes, Telecanthus, Patent ductus arteriosus, Splenomegaly, Syndactyly, Sparse hair, S... OMIM:613610
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Genu varum, Downslanted palpebral fissures, Overriding aorta, Ar... ORPHA:1110
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Ptosis, Apnea, Facial palsy, Knee flexion contracture OMIM:617239
Double Outlet Right Ventricle
Truncus arteriosus, Tachypnea, Double outlet right ventricle, Coarctation of aorta, Tachycardia, ... ORPHA:3426
Diabetic Embryopathy
Abnormal aortic morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Transposition o... ORPHA:1926
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Dry skin, Abnormal fi... ORPHA:248
Menkes Disease
Aplasia/Hypoplasia of the abdominal wall musculature, Intracranial hemorrhage, Hypopigmentation o... ORPHA:565
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Hypertrichosis, Mitral valve prolapse, Ptosis, Telecanthus, Restricti... OMIM:247410
Bifid Nose, Autosomal Dominant
Ptosis OMIM:109740
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, ... ORPHA:98913
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Inguinal hernia OMIM:614294
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Myasthenic Syndrome, Congenital, 19
Facial palsy, Respiratory insufficiency, Recurrent lower respiratory tract infections, Ptosis OMIM:616720
Elastosis Perforans Serpiginosa
Cutis laxa ORPHA:79148
Classical-Like Ehlers-Danlos Syndrome Type 1
Precocious atherosclerosis, Mitral valve prolapse, Skeletal muscle atrophy, Hyperextensible skin ORPHA:230839
Holt-Oram Syndrome
Abnormal aortic morphology, Atrioventricular block, Patent ductus arteriosus, Anomalous pulmonary... ORPHA:392
Aortic Arch Interruption
Truncus arteriosus, Patent ductus arteriosus, Intermittent claudication, Exertional dyspnea, Abno... ORPHA:2299
Congenital Disorder Of Glycosylation, Type Iq
Hypertrichosis, Cutis laxa OMIM:612379
Cardiac Diverticulum
Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Patent ductus arte... ORPHA:1686
Lenz-Majewski Hyperostotic Dwarfism
Diaphyseal thickening, Proximal symphalangism of hands, Cutis laxa, Humeroradial synostosis, Lacr... OMIM:151050
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Respiratory insufficiency, Limb mus... OMIM:603034
Juvenile Dermatomyositis
Calcinosis, Dry skin, Pericarditis, Myositis, Alopecia, Erythema, Cough, Cardiomyopathy, Vasculit... ORPHA:93672
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Hepatomegaly, Metaphyseal dysplasia, Abnormality of femur morphology... ORPHA:1842
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Desquamative interstitial pneumonitis, Neonatal respiratory distress, Tachypnea... OMIM:265120
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... OMIM:619632
Spastic Ataxia 1, Autosomal Dominant
Ptosis, Leg muscle stiffness OMIM:108600
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Granulomatous coronary arteritis, Vascular dilatation, Pleural effusion OMIM:108050
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hypertrophic cardiomyopathy, Hepatomegaly, Ragged-red muscle fibers, Ske... ORPHA:17
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Talipes equinovarus, Ptosis, Ulnar deviation of finger, Telecanthus... OMIM:277720
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Rec... OMIM:263000
Pili Torti
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... ORPHA:2889
Gapo Syndrome
Hepatomegaly, Sparse eyelashes, Sparse hair, Hypoplastic nipples, Alopecia, Sparse eyebrow, Nail ... OMIM:230740
Sézary Syndrome
Hepatomegaly, Skeletal muscle atrophy, Ectropion, Nail dystrophy, Alopecia, Splenomegaly, Abnorma... ORPHA:3162
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Ascending tubular aorta aneurysm, Arachnodactyly, Atrial septal defect... OMIM:309520
Proteus Syndrome
Limbal dermoid, Ptosis, Downslanted palpebral fissures, Splenomegaly, Venous malformation OMIM:176920
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Respiratory distress, Myopathy ORPHA:91130
Emanuel Syndrome
Congenital diaphragmatic hernia, Truncus arteriosus, Inguinal hernia, Patent ductus arteriosus OMIM:609029