Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Pallor, Endocardial fibroelastosis, Intrauterine ... |
ORPHA:60041 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pallor, Short stature |
ORPHA:49827 |
Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Pallor |
OMIM:500007 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... |
OMIM:278760 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort... |
ORPHA:3099 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Pallor, Atrial septal defect, Intrauterine growth retar... |
OMIM:609053 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Chro... |
OMIM:600901 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Pallor |
ORPHA:163596 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Chro... |
OMIM:227650 |
Trichothiodystrophy |
|
Ventricular septal defect, Defective DNA repair after ultraviolet radiation damage, Cardiomyopath... |
ORPHA:33364 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyr... |
OMIM:227645 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Prolonged G2 phase of cell cycle, Abnormal heart morphology, Deficient ... |
OMIM:227646 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
American Trypanosomiasis |
|
Myocarditis, Cardiomyopathy, Pallor |
ORPHA:3386 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Cardiomegaly |
ORPHA:99931 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Phaver Syndrome |
|
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... |
ORPHA:2876 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Hypoplastic aort... |
OMIM:614846 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Hereditary Spherocytosis |
|
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, Delayed puberty |
ORPHA:231226 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Intrauterine growth retardation, Overriding aorta, Arteriovenous malformation, Abnormal aortic ar... |
ORPHA:1110 |
Xfe Progeroid Syndrome |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, Delayed puberty |
ORPHA:231214 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct... |
OMIM:600001 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Sepsis In Premature Infants |
|
Pallor, Petechiae, Purpura |
ORPHA:90051 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short stature, Pallor, Atrial septal defect, Intra... |
OMIM:105650 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
De Sanctis-Cacchione Syndrome |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Pallor |
ORPHA:20 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric... |
OMIM:265380 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T... |
OMIM:192430 |
Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
Waldenström Macroglobulinemia |
|
Pallor, Purpura |
ORPHA:33226 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct... |
ORPHA:2255 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Atrial septal defec... |
ORPHA:314588 |
Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Pallor |
OMIM:606812 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... |
ORPHA:980 |
Incontinentia Pigmenti |
|
Erythema, Short stature, Pallor |
OMIM:308300 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Pallor |
ORPHA:2131 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
De Barsy Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... |
ORPHA:2962 |
Esophageal Atresia |
|
Growth delay, Tetralogy of Fallot, Ventricular septal defect, Pallor |
ORPHA:1199 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Degcags Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pallor, Pulmonic stenosis, Atrial septal def... |
OMIM:619488 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Short stature, Abnormal heart morphology, Growth delay, Pallor, Atrial... |
ORPHA:124 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Pallor, Cardiomegaly |
ORPHA:137675 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Pallor, Myocardial eosinophilic infiltration |
ORPHA:3260 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... |
OMIM:617506 |
20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of... |
ORPHA:261311 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor, Delayed puberty |
ORPHA:91347 |
Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Pallor, Abnormal pulmonary valve morphology |
ORPHA:667 |
Fryns Syndrome |
|
Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Tetralogy of Fallot, Abnorma... |
ORPHA:2059 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Retinal arteriolar ... |
ORPHA:567 |
Von Hippel-Lindau Disease |
|
Myocarditis, Cardiomyopathy, Pallor |
ORPHA:892 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Pallor |
ORPHA:544482 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ventricular septal defect, Atrioventricular canal defect, Patent ductus arteriosu... |
ORPHA:508488 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl... |
OMIM:300166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ventricular septal defect, Large placenta, Pulmonary artery stenosis, Abnormal aortic arch morpho... |
ORPHA:96334 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... |
OMIM:157800 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Muscular ventricular septa... |
OMIM:619503 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch |
ORPHA:457284 |