| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Verheij Syndrome |
|
Branchial cyst, Short stature, Ventricular septal defect, Short neck, Growth delay, Intrauterine ... |
OMIM:615583 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| X-Linked Mandibulofacial Dysostosis |
|
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology |
ORPHA:1131 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
| Aplasia Cutis Congenita |
|
Skin ulcer, Spinal dysraphism |
ORPHA:1114 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Pallor, Endocardial fibroelastosis, Intrauterine ... |
ORPHA:60041 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Pallor, Pericarditis |
ORPHA:163596 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pallor, Short stature |
ORPHA:49827 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... |
ORPHA:1908 |
| Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... |
ORPHA:2162 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Pallor |
OMIM:500007 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Ventricular septal defect, Short neck, Pallor, Atrial septal defect, Intrauterine ... |
OMIM:609053 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Short stature, Ventricular septal defect, Growth delay, Atrial septal defect, ... |
ORPHA:261330 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
| Alg3-Cdg |
|
Neural tube defect, Cardiomyopathy |
ORPHA:79321 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
| Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort... |
ORPHA:3099 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
| Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Low poster... |
ORPHA:261337 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:352665 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Pallor |
ORPHA:536516 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
| Dravet Syndrome |
|
Limited neck range of motion, Pallor |
ORPHA:33069 |
| Isolated Posterior Meningocele |
|
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... |
ORPHA:268810 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Ventricular septal defect... |
ORPHA:508488 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus |
ORPHA:861 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
| Diamond-Blackfan Anemia 1 |
|
Short stature, Ventricular septal defect, Tricuspid stenosis, Short neck, Pallor, Webbed neck, At... |
OMIM:105650 |
| Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Atrial septal de... |
OMIM:617660 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
| American Trypanosomiasis |
|
Myocarditis, Cardiomyopathy, Pallor |
ORPHA:3386 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Cardiomegaly |
ORPHA:99931 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Short stature, Atrial septal defect, Intrauterine growth retardation... |
OMIM:620186 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
| Hereditary Spherocytosis |
|
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
| Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
| Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, Delayed puberty |
ORPHA:231226 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Abnormal pulmonary valve morphology, Hydrocephalus, Growth delay, Pallor |
ORPHA:667 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Ventricular septal defect, Pallor, Cardiomegaly |
ORPHA:137675 |
| Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Short stature, Patent ductus arteriosus, Hydrocephalus, Abnormal heart morphology |
OMIM:227646 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
| Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, Delayed puberty |
ORPHA:231214 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran... |
OMIM:164210 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
| Sepsis In Premature Infants |
|
Pallor, Petechiae, Purpura |
ORPHA:90051 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Pallor |
ORPHA:20 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Branchiooculofacial Syndrome |
|
Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Intrauterine... |
OMIM:113620 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Erythema, Short stature, Pallor |
OMIM:308300 |
| Diamond-Blackfan Anemia |
|
Ventricular septal defect, Short stature, Short neck, Abnormal heart morphology, Growth delay, Pa... |
ORPHA:124 |
| Waldenström Macroglobulinemia |
|
Pallor, Purpura |
ORPHA:33226 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Pallor |
OMIM:606812 |
| Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Ventricular septal defect, Anemic pallor, Short stature |
OMIM:227645 |
| Degcags Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Low posterior hairline, Pallor, Pulmonic ste... |
OMIM:619488 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
| Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Pallor |
ORPHA:2131 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Witteveen-Kolk Syndrome |
|
Growth delay, Branchial fistula, Short stature, Intrauterine growth retardation |
OMIM:613406 |
| Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Esophageal Atresia |
|
Growth delay, Tetralogy of Fallot, Ventricular septal defect, Pallor |
ORPHA:1199 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Short stature, Abnormal heart morphology |
OMIM:600901 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Short stature, Abnormal heart morphology |
OMIM:227650 |
| Semilobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:93924 |
| Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Pallor, Myocardial eosinophilic infiltration |
ORPHA:3260 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Pallor |
OMIM:253280 |
| Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor, Delayed puberty |
ORPHA:91347 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Short neck, Abnormal heart morphology, Neural tube defect, Umbilical h... |
ORPHA:798 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Pallor |
ORPHA:544482 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Cardiomyopathy, Pallor |
ORPHA:892 |
| Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
