| Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Lynch Syndrome 1 |
|
Colon cancer |
OMIM:120435 |
| Lynch Syndrome 2 |
|
Colon cancer |
OMIM:609310 |
| Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
| Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
| Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Facial cleft |
OMIM:600776 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
| Anophthalmia Plus Syndrome |
|
Abnormal nasal morphology, Choanal atresia, Facial cleft, Spina bifida |
ORPHA:1104 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, F... |
ORPHA:1791 |
| Supernumerary Nostril |
|
Supernumerary naris, Choanal atresia, Facial cleft |
ORPHA:141096 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Depressed nasal ridge, Facial cleft, Choanal atresia |
OMIM:607597 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... |
ORPHA:90064 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Facial cleft, Anterior encephalocele |
OMIM:601357 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
| Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum, Wide nasal bridge |
OMIM:614019 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... |
ORPHA:141091 |
| Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Frontonasal Dysplasia 3 |
|
Wide nasal bridge, Facial cleft, Underdeveloped nasal alae |
OMIM:613456 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly, Wide nasal bridge |
OMIM:614870 |
| Oculomaxillofacial Dysostosis |
|
Wide nasal bridge, Facial cleft, Underdeveloped nasal alae, Abnormality of the nose |
ORPHA:1794 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Facial cleft, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Anteverted nares |
ORPHA:324422 |
| Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Hydrocephalu... |
OMIM:609637 |
| Congenital Hydrocephalus |
|
Bulbous nose, Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Tessier number 13 facial cleft, Cleft ala nasi, Aplasia of the nasal bone, Antever... |
OMIM:613451 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Bifid nose, Facial cleft, Broad nasal tip |
OMIM:239800 |
| Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
| Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Intrauterine growth retardation, Abnormal lateral ventricle morphology, Depressed nasal bridge, W... |
ORPHA:488635 |
| Acrofacial Dysostosis, Catania Type |
|
Intrauterine growth retardation, Short nose, Spina bifida occulta, Facial cleft |
ORPHA:1786 |
| Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Broad nasal tip, Bifid nasal tip, Midline facial cleft, Choroid plexus cyst, Wide ... |
OMIM:603671 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Hydrocephalus, Pallor, Pericarditis |
ORPHA:163596 |
| Mosaic Trisomy 9 |
|
Spina bifida, Bulbous nose, Facial cleft, Intrauterine growth retardation, Dandy-Walker malformat... |
ORPHA:99776 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft |
OMIM:600251 |
| Cerebrooculonasal Syndrome |
|
Abnormal nostril morphology, Facial cleft |
ORPHA:66625 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
| Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Glutamine Deficiency, Congenital |
|
Anteverted nares, Depressed nasal bridge, Erythema, Wide nasal bridge, Subependymal cysts, Latera... |
OMIM:610015 |
| Intussusception |
|
Intussusception |
OMIM:147710 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation |
ORPHA:1201 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
| Dermatitis, Atopic |
|
Pallor, Dry skin, Allergic rhinitis, Facial erythema |
OMIM:603165 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
| Mycophenolate Mofetil Embryopathy |
|
Bifid nose, Hydrocephalus, Agenesis of corpus callosum, Facial cleft |
ORPHA:268249 |
| Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
| Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
| Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
| Acrofacial Dysostosis, Weyers Type |
|
Facial cleft |
ORPHA:952 |
| Pancreatic Colipase Deficiency |
|
Fat malabsorption, Steatorrhea |
ORPHA:309108 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Unilateral Ocular Duplication |
|
Encephalocele, Midline facial cleft |
ORPHA:3374 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Lateral ventricle dilatation,... |
OMIM:613443 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Facial cleft, Bifid nose, Cranium bifidum occultum,... |
ORPHA:306542 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Anteverted nares |
OMIM:300982 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Fraser Syndrome 1 |
|
Encephalocele, Wide nose, Cleft ala nasi, Depressed nasal bridge, Underdeveloped nasal alae, Hydr... |
OMIM:219000 |
| Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Congestive heart failure, Pallor, Cardiac arrest |
ORPHA:49827 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Evans Syndrome |
|
Pallor, Syncope, Epistaxis, Petechiae |
ORPHA:1959 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:616034 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
| Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Choanal atresia, Wide nasal bridge, Facial cleft |
ORPHA:861 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Anteverted nares, Prominent nasal bridge, Lateral ventricle dilatation,... |
OMIM:617751 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Broad nasal tip |
OMIM:619420 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
| Constricting Bands, Congenital |
|
Encephalocele, Facial cleft |
OMIM:217100 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:618736 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... |
OMIM:601346 |
| Holoprosencephaly 1 |
|
Proboscis, Alobar holoprosencephaly, Facial cleft, Aplasia of the nose, Ethmocephaly, Agenesis of... |
OMIM:236100 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Lateral ventric... |
OMIM:619995 |
| Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... |
ORPHA:2070 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Short nose,... |
OMIM:619833 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Bartsocas-Papas Syndrome 1 |
|
Underdeveloped nasal alae, Facial cleft, Intrauterine growth retardation, Short nose, Dry skin |
OMIM:263650 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Wide nasal bridge, Short nose, Broad nasal tip |
OMIM:615716 |
| Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
| Adams-Oliver Syndrome 2 |
|
Bulbous nose, Hydrocephalus, Depressed nasal bridge, Lateral ventricle dilatation |
OMIM:614219 |
| Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Recurrent pharyngitis, Erythema, Pallor, Arrhythmia |
ORPHA:3099 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Anteverted nares |
OMIM:618731 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Bulbous nose, Lateral ventricle dilatation |
OMIM:618330 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Colpocephaly, Agenesis of corpus callosum, Pallor |
OMIM:609053 |
| Craniosynostosis 6 |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:616602 |
| Alg2-Cdg |
|
Lateral ventricle dilatation, Wide nasal bridge |
ORPHA:79326 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Depressed nasal bridge |
OMIM:619955 |
| Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Colpocephaly, Agenesis of corpus callos... |
OMIM:615219 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption |
OMIM:600955 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Depressed nasal bridge |
ORPHA:284417 |
| Leishmaniasis |
|
Rhinitis, Pallor, Skin ulcer |
ORPHA:507 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Lateral ventricle dilatation, Spina bifida occulta, Subdural hemorrhage, Ventriculomegaly |
OMIM:618291 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
| Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
| Weiss-Kruszka Syndrome |
|
Anteverted nares, Colpocephaly, Short nose, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
| American Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia |
ORPHA:3386 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Bulbous nose, Lateral ventricle dilatation, Short nose |
OMIM:614105 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Anteverted nares, Wide nasal bridge |
OMIM:608629 |
| 3Mc Syndrome 3 |
|
Facial cleft |
OMIM:248340 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Facial cleft |
ORPHA:1236 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... |
OMIM:175500 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Heart murmur, Diffuse alveolar hemorrhage |
ORPHA:99931 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
| Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum |
OMIM:190440 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Anteverted nares, Hydrocephalus, Lateral v... |
OMIM:612863 |
| Primary Myelofibrosis |
|
Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Depressed nasal ridge, Pallor |
OMIM:600462 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Intrauterine growth retard... |
ORPHA:79243 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Dandy-Walker malformation, Redundant neck skin, Depressed nasal bridge, ... |
ORPHA:397715 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Pallor |
ORPHA:3226 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Prominent nose, Bulbous nose, Choroid plexus cyst, Depressed nasal tip, Lateral ventricle dilatat... |
ORPHA:293725 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Prominent nose, Dry skin, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corp... |
OMIM:619244 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly, Depressed nasal ridge, Wide nasal bridge |
ORPHA:2211 |
| Fumarase Deficiency |
|
Depressed nasal bridge, Anteverted nares, Choroid plexus cyst, Pallor, Agenesis of corpus callosu... |
OMIM:606812 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor, Ventriculomegaly |
ORPHA:348 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure, Pallor |
ORPHA:75564 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Aortic regurgitation |
OMIM:600721 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Recurrent upper respiratory tract infections, Lateral ventricle dilatat... |
ORPHA:3078 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| Alg6-Cdg |
|
Macroglossia, Protein-losing enteropathy |
ORPHA:79320 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... |
ORPHA:33226 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Cerebral hemorrhage, Lateral ventricle dilatation, Bradycardia, Petechiae |
OMIM:617397 |
| Halperin-Birk Syndrome |
|
Colpocephaly, Umbilical hernia, Intrauterine growth retardation, Agenesis of corpus callosum, Ven... |
OMIM:618651 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90033 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Wide nose, Depressed nasal bridge, Facial cleft, Dandy-Walker malformation, Agenesis of corpus ca... |
ORPHA:93271 |
| Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Depressed nasal bridge, Ventriculomegaly |
ORPHA:420179 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Anteverted nares, Dandy-Walker malformation |
OMIM:618606 |
| Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption |
ORPHA:398063 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Long nose, Partial agenesis of the corpus callosum, Bulbous nose, Colpocephaly, Intrauterine grow... |
OMIM:620113 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum |
OMIM:619517 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy |
ORPHA:79319 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation |
OMIM:607596 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Dominant Beta-Thalassemia |
|
Depressed nasal bridge, High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer,... |
ORPHA:231226 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Pallor |
ORPHA:263455 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Prominent nasal bridge, Lateral ventricle dilatation, Prominent nasolabial ... |
OMIM:619745 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Cog5-Cdg |
|
Prominent nose, Wide nasal bridge, Lateral ventricle dilatation, Intrauterine growth retardation,... |
ORPHA:263487 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
| Cach Syndrome |
|
Intrauterine growth retardation, Lateral ventricle dilatation |
ORPHA:135 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
| Bainbridge-Ropers Syndrome |
|
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Broa... |
OMIM:615485 |
| Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
| 16Q24.3 Microdeletion Syndrome |
|
Anteverted nares, Dilated cardiomyopathy, Colpocephaly, Mitral regurgitation, Ventriculomegaly |
ORPHA:261250 |
| Sepsis In Premature Infants |
|
Tachycardia, Pallor, Bradycardia, Hypotension, Petechiae, Purpura |
ORPHA:90051 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Beta-Thalassemia Intermedia |
|
High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer |
ORPHA:231222 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Acholic stools, Steatorrhea |
OMIM:607765 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Umbilical hernia, Lateral ventricle dilatation, Pulmonic stenosis |
OMIM:618914 |
| Beta-Thalassemia Major |
|
Depressed nasal bridge, High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer,... |
ORPHA:231214 |
| Distal Deletion 10Q |
|
Prominent nasal bridge, Prominent nose, Wide nasal bridge, Lateral ventricle dilatation, Short no... |
ORPHA:96148 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Pallor |
ORPHA:98870 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Wide nasal bridge, Cardiomyopathy, Lateral ventricle dilatation, Intrau... |
ORPHA:572798 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation, Depressed nasal bridge |
OMIM:620075 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Raynaud phenomenon, Vasculitis, Hypertension, Ventriculome... |
ORPHA:1855 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
| Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Mitral stenosis, Agenesis of corpus callosum, Ventriculomegaly, Low hanging columella |
OMIM:617260 |
| Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
| Beta-Ketothiolase Deficiency |
|
Hypertension, Pallor, Hypotension |
ORPHA:134 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation |
OMIM:617854 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Portal hypertension, Hypertension, Lateral ventricle dilatation, Increased blood pr... |
OMIM:619487 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Hydrocephalus, Pallor, Chronic rhinitis |
ORPHA:667 |
| Serkal Syndrome |
|
Malrotation of small bowel |
ORPHA:139466 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Diamond-Blackfan Anemia 1 |
|
Tricuspid stenosis, Congestive heart failure, Depressed nasal ridge, Pallor, Intrauterine growth ... |
OMIM:105650 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... |
OMIM:300952 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Dilated cardiomyopathy, Cardiac arrest, Hypotension |
ORPHA:20 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption |
ORPHA:79302 |
| Refractory Anemia With Excess Blasts |
|
Palpitations, Anemic pallor, Retinal hemorrhage |
ORPHA:86839 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Pallor, Hypotension |
ORPHA:98849 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
| Slc35A2-Cdg |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Dandy-Walker malformation |
ORPHA:356961 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Bradycardia |
ORPHA:565624 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Anteverted nares, Wide nasal bridge |
OMIM:611209 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent upper and lower respiratory tract infections, Pallor |
ORPHA:331206 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Dilated third ... |
OMIM:619575 |
| Pituitary Apoplexy |
|
Hypertension, Pallor, Hypotension |
ORPHA:95613 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Pallor |
ORPHA:35858 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy |
OMIM:608104 |
| Degcags Syndrome |
|
Tachycardia, Anteverted nares, Prominent nasal bridge, Prominent nose, Pulmonary arterial hyperte... |
OMIM:619488 |
| Non-Functioning Pituitary Adenoma |
|
Pallor, Hypotension |
ORPHA:91349 |
| Weaver Syndrome |
|
Depressed nasal bridge, Cutis laxa, Lateral ventricle dilatation, Umbilical hernia, Ventriculomegaly |
OMIM:277590 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption |
OMIM:214950 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Short nasal bridge, Pallor, Ventriculomegaly |
OMIM:253280 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Fat malabsorption |
OMIM:211600 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
| Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Hydrocephalus, Colpocephaly, Histiocytoid cardiomyopathy, Arrhyth... |
OMIM:309801 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... |
OMIM:115470 |
| Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
| Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Colpocephaly, Intrauterine growth retardation, Short nose, Ventriculomegaly |
OMIM:618460 |
| Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... |
ORPHA:3260 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Heart murmur, Colpocephaly, Mitral regurgitation, ... |
OMIM:614866 |
| Chylomicron Retention Disease |
|
Fat malabsorption, Steatorrhea |
ORPHA:71 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Dry skin, Ventriculomegaly |
OMIM:619229 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Prominent nasal tip, Anteverted nares, Lateral ventricle dilatation, Pulmonary arterial hypertens... |
ORPHA:464738 |
| Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus, Partial agenesis of the corpus callosum |
ORPHA:300570 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum |
OMIM:617296 |
| Holoprosencephaly 13, X-Linked |
|
Alobar holoprosencephaly, Colpocephaly, Aplasia of the nose, Agenesis of corpus callosum, Semilob... |
OMIM:301043 |
| Aicardi Syndrome |
|
Anteverted nares, Spina bifida, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lat... |
OMIM:304050 |
| Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle, Bulbous nose |
ORPHA:544488 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Anteverted nares, Prominent nose, Hydrocephalus, Partial agenesis of the corpus callosum, Hyperte... |
OMIM:210710 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:488627 |
| Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Anteverted nares, Prominent nose, Broad nasal tip, Lateral ventricle dilatat... |
ORPHA:177907 |
| Incontinentia Pigmenti |
|
Pallor, Erythema, Retinal hemorrhage |
OMIM:308300 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Dysplastic corpus callosum, Colpocephaly, Holoprosencephaly, Short nos... |
OMIM:618820 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Pallor |
ORPHA:300298 |
| Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation, Short nose |
ORPHA:457279 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P... |
ORPHA:91347 |
| Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Wide nasal bridge, Depressed nasal bridge |
ORPHA:1692 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract |
OMIM:600145 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
| Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Agenesis of corpus callosum, Anemic pallor |
OMIM:227646 |
| Scalp-Ear-Nipple Syndrome |
|
Anteverted nares, Depressed nasal bridge, Congestive heart failure, Hypertension, Lateral ventric... |
OMIM:181270 |
| Smith-Lemli-Opitz Syndrome |
|
Anteverted nares, Depressed nasal bridge, Hydrocephalus, Partial agenesis of the corpus callosum,... |
OMIM:270400 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation |
OMIM:619847 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Anemic pallor |
ORPHA:329971 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Oculoskeletodental Syndrome |
|
Macroglossia, Protein-losing enteropathy |
OMIM:618440 |
| Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Abnormal small intestinal villus morphology, Increased stool alpha1-... |
ORPHA:90362 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly |
OMIM:619479 |
| Gabriele-De Vries Syndrome |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Broad nasal tip |
OMIM:617557 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Esophageal Atresia |
|
Pallor, Choanal atresia |
ORPHA:1199 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Protein-losing enteropathy, Cleft palate |
OMIM:235255 |
| Immunodeficiency 31C |
|
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception |
OMIM:614162 |
| Helsmoortel-Van Der Aa Syndrome |
|
Anteverted nares, Broad nasal tip, Wide nasal bridge, Heart murmur, Lateral ventricle dilatation,... |
OMIM:615873 |
| Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly, Anteverted nares, Wide nasal bridge, Narrow nasal tip |
ORPHA:477993 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Intestinal lymphangiectasia, Rectal prolapse, Protein-losing enteropathy, Narrow palate |
OMIM:235510 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Colpocephaly, Narrow nasal ridge |
OMIM:620083 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... |
ORPHA:512 |
| Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma |
ORPHA:653 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertension, Pallor, Hypertensive crisis |
ORPHA:544482 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Diamond-Blackfan Anemia |
|
Pallor, Depressed nasal bridge, Wide nasal bridge |
ORPHA:124 |
| Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation |
ORPHA:1666 |
| Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Lateral ventricle dilatation, Narrow naris, Underdeveloped nasal alae |
OMIM:614098 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
| Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Anemic pallor |
OMIM:227645 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lateral ventricle dilatation, Orthostatic hypotension |
ORPHA:2822 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Protein-losing enteropathy |
ORPHA:1655 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Cardiac conduction abnormality, Prominent nasal septum, Pu... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Cardiac conduction abnormality, Prominent nasal septum, Pu... |
ORPHA:353277 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine |
OMIM:200995 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Protein-losing enteropathy |
OMIM:618183 |
| Fanconi Anemia, Complementation Group E |
|
Anemic pallor |
OMIM:600901 |
| Fanconi Anemia, Complementation Group A |
|
Anemic pallor |
OMIM:227650 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lateral ventricle dilatation, Anteverted nares, Depressed nasal bridge |
OMIM:300868 |
| Tarp Syndrome |
|
Glossoptosis, Tongue nodules, Cleft palate, Abnormal duodenum morphology |
ORPHA:2886 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... |
OMIM:265380 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... |
OMIM:619534 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Hypertension, Wide nasal bridge |
OMIM:300896 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Transient ischemic attack, Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge,... |
ORPHA:500150 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation, Short umbilical cord |
OMIM:618367 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Lateral ventricle dilatation, Tricuspid regurgitation |
OMIM:263520 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Overhanging nasal tip |
OMIM:619869 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Depressed nasal bridge, Hydrocephalus, Dilated cardiomyopathy, Depr... |
OMIM:607872 |
| Genitopatellar Syndrome |
|
Wide nose, Prominent nasal bridge, Prominent nose, Wide nasal bridge, Colpocephaly, Agenesis of c... |
OMIM:606170 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Protein-losing enteropathy, He... |
ORPHA:731 |
| Kabuki Syndrome 1 |
|
Hydrocephalus, Wide nasal bridge, Lateral ventricle dilatation, Depressed nasal tip |
OMIM:147920 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Abnormal duodenum morphology |
OMIM:601776 |
| 6Q Terminal Deletion Syndrome |
|
Colpocephaly |
ORPHA:75857 |
| Goodpasture Syndrome |
|
Pallor, Pulmonary hemorrhage |
OMIM:233450 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Branchial anomaly, Transverse facial cleft, Agenesis of c... |
OMIM:164210 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |
| Choreoacanthocytosis |
|
Lateral ventricle dilatation, Dilated cardiomyopathy |
ORPHA:2388 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hyphema, Wide nasal bridge, Depressed nasal tip, Lateral ventricle dilatation, Concave nasal ridg... |
ORPHA:261552 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Wide nasal bridge, Depressed nasal tip, Lateral ventricle dilatation, Pulmonic stenosis, Aortic v... |
ORPHA:261537 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Protein-losing enteropathy |
OMIM:619991 |
