| Ciliary Dyskinesia, Primary, 18 |
|
Immotile cilia, Abdominal situs ambiguus, Situs inversus totalis, Absent inner dynein arms, Respi... |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 13 |
|
Immotile cilia, Situs inversus totalis, Absent inner dynein arms, Absent outer dynein arms, Cilia... |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 7 |
|
Abnormal axonemal organization of respiratory motile cilia, Situs inversus totalis, Abnormal cili... |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Reduced respiratory ciliary beating frequency, Atrioven... |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 16 |
|
Abnormal ciliary motility, Situs inversus totalis, Absent outer dynein arms, Ciliary dyskinesia |
OMIM:614017 |
| Ciliary Dyskinesia, Primary, 17 |
|
Dynein arm defect of respiratory motile cilia, Situs inversus totalis, Dextrocardia, Ciliary dysk... |
OMIM:614679 |
| Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Situs inversus totalis, Ventricular septal defect, Dextrocardia, Respiratory ins... |
OMIM:616037 |
| Ciliary Dyskinesia, Primary, 28 |
|
Respiratory insufficiency due to defective ciliary clearance, Dynein arm defect of respiratory mo... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 26 |
|
Immotile cilia, Situs inversus totalis, Respiratory insufficiency due to defective ciliary cleara... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Polysplenia, Situs inversus totalis, ... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 32 |
|
Immotile cilia, Situs inversus totalis, Absent respiratory ciliary axoneme radial spokes, Ciliary... |
OMIM:616481 |
| Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Immotile cilia, Situs inversus totalis, Dextrocardia, Absent inner and outer dyn... |
OMIM:615444 |
| Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Immotile cilia, Situs inversus totalis, Absent inner and outer dynein arms, Resp... |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:612518 |
| Ciliary Dyskinesia, Primary, 38 |
|
Immotile cilia, Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms |
OMIM:618063 |
| Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Immotile cilia, Situs inversus totalis, Dextrocardia, Absent inner and outer dyn... |
OMIM:606763 |
| Ciliary Dyskinesia, Primary, 12 |
|
Short stature, Abnormal central microtubular pair morphology of respiratory motile cilia, Situs i... |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Abdominal situs inversus, Dilated fourth ventricle, Situs inversus totalis, Patent f... |
OMIM:620642 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Left atrial isomerism, Polysplenia, Intestinal malrotation, Abdominal situs inversus, Atrioventri... |
OMIM:605376 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Absent outer dynein arms, Ciliary dyskinesia |
OMIM:612444 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
| Ciliary Dyskinesia, Primary, 43 |
|
Abdominal situs inversus, Noncommunicating hydrocephalus |
OMIM:618699 |
| Ciliary Dyskinesia, Primary, 24 |
|
Immotile cilia, Situs inversus totalis, Ciliary dyskinesia |
OMIM:615481 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:608644 |
| Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... |
OMIM:615451 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Situs inversus totalis, Coiled sperm flagella, Short sperm flagella, Ciliary dys... |
OMIM:620197 |
| Ciliary Dyskinesia, Primary, 25 |
|
Gastroesophageal reflux, Polysplenia, Immotile cilia, Situs inversus totalis, Dextrocardia, Cilia... |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 29 |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:615872 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Situs inversus total... |
OMIM:613808 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Situs inversus totalis |
OMIM:620032 |
| Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... |
OMIM:615504 |
| Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Immotile cilia, Situs inversus totalis, Asplenia, Communicating hydrocephalus, A... |
OMIM:244400 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Dextrocardia |
|
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Intestinal malrotatio... |
ORPHA:1666 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Abdominal situs inversus, Atria... |
OMIM:617205 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Situs inversus tot... |
OMIM:608647 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... |
ORPHA:1908 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Abdominal situs inversus, Abnormal mesentery morphology, Duodenal ... |
ORPHA:1198 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Neonatal death, Tracheoesophageal fistula, Esophageal atresia, Hyd... |
OMIM:314390 |
| Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Nasal polyposis, Polysplenia, Atrial situs ambiguous, Intestinal malrotation, A... |
ORPHA:244 |
| Ciliary Dyskinesia, Primary, 35 |
|
Nasal polyposis, Abdominal situs ambiguus, Situs inversus totalis |
OMIM:617092 |
| Right Atrial Isomerism |
|
Common atrium, Total anomalous pulmonary venous return, Polysplenia, Tetralogy of Fallot, Abdomin... |
OMIM:208530 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Situs inversus totalis, Short sperm flagella, Absent sperm flagell... |
OMIM:620438 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Myelomeningocele, Situs inversus totalis, Ectopic anus, Hydrocephalus, Dextrocardi... |
OMIM:613686 |
| Ciliary Dyskinesia, Primary, 6 |
|
Abnormal ciliary motility, Absent/shortened outer dynein arms, Abnormal respiratory motile cilium... |
OMIM:610852 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Situs inversus totalis, Agenesis of corpus callosum, Dysplastic corpus callosum, Short stature, M... |
OMIM:614833 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis |
OMIM:300991 |
| Ciliary Dyskinesia, Primary, 11 |
|
Short stature, Immotile cilia, Abnormal central microtubular pair morphology of respiratory motil... |
OMIM:612649 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Situs inver... |
OMIM:615382 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Abdominal situs inversus, Intestinal malrotation, Atriov... |
OMIM:270100 |
| Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
| Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Gastroesophageal reflux, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Atria... |
OMIM:249270 |
| Lissencephaly 4 |
|
Short stature, Colpocephaly, Growth delay, Agenesis of corpus callosum |
OMIM:614019 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Agnathia-Otocephaly Complex |
|
Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Agenesis of corpus... |
OMIM:202650 |
| Developmental And Epileptic Encephalopathy 102 |
|
Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
| Cardiofacioneurodevelopmental Syndrome |
|
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Pulmonic sten... |
OMIM:619123 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... |
OMIM:615067 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Total anomalous pulmonary venous return, Polysplenia, Intestinal malrotation, Mitral atresia, Atr... |
OMIM:616749 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... |
OMIM:615751 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis... |
OMIM:267010 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Absent inner and outer dynein arms |
OMIM:618801 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:215520 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia |
OMIM:617577 |
| Hypoglossia With Situs Inversus |
|
Microglossia, Polysplenia, Situs inversus totalis, Asplenia, High palate |
OMIM:612776 |
| Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Tremor, Hyperuricemia, Elevat... |
ORPHA:94093 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Masa Syndrome |
|
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:303350 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... |
OMIM:208540 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H... |
OMIM:615415 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile cilia, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Ciliary dyskin... |
OMIM:242670 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Reduced respiratory cili... |
OMIM:617091 |
| Thoraco-Abdominal Enteric Duplication |
|
Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Hep... |
ORPHA:1759 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Ciliary Dyskinesia, Primary, 44 |
|
Heterotaxy |
OMIM:618781 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Hyperammonemia, Tremor, Hyperglutamatemia, Hyperprolinemia, Hypoglut... |
ORPHA:3008 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Holoprosencephaly, Microglossia, Situs inversus totalis, Agenesis of corpus callosum |
ORPHA:990 |
| Joubert Syndrome |
|
Aganglionic megacolon, Encephalocele, Situs inversus totalis, Hydrocephalus |
ORPHA:475 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
| Congenital Hydrocephalus |
|
Abnormal heart morphology, Ventriculomegaly, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... |
OMIM:619608 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:225050 |
| Familial Visceral Myopathy |
|
Aganglionic megacolon, Abdominal situs inversus, Cleft palate |
ORPHA:2604 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| 1Q21.1 Microduplication Syndrome |
|
Tetralogy of Fallot, Gastroesophageal reflux, Hydrocephalus |
ORPHA:250994 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Hyperglycinemia, Hypernatremia, Exaggerated startle response |
OMIM:620423 |
| Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
| Edinburgh Malformation Syndrome |
|
Jaundice, Hydrocephalus |
OMIM:129850 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Short stature, Anal atresia, Dextrocardia, High palate |
ORPHA:2863 |
| Gaisböck Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... |
ORPHA:90041 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:158048 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Colpocephaly, Neonatal death |
OMIM:614870 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:600348 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Biemond Syndrome Ii |
|
Short stature, Hydrocephalus |
OMIM:210350 |
| Marden-Walker Syndrome |
|
Severe short stature, Bifid uvula, Intrauterine growth retardation, Situs inversus totalis, Submu... |
ORPHA:2461 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
| Marden-Walker Syndrome |
|
High, narrow palate, Postnatal growth retardation, Intrauterine growth retardation, Zollinger-Ell... |
OMIM:248700 |
| Marfanoid Habitus With Situs Inversus |
|
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse |
OMIM:609008 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... |
OMIM:607941 |
| Wolf-Hirschhorn Syndrome |
|
Abdominal situs inversus, Abnormal heart valve morphology, Abnormality of the gallbladder, Intrau... |
ORPHA:280 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Dystonia |
ORPHA:163921 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Tracheoesophageal fistula, Hydrocephalus, Dextrocardia, Spina bifida, Spina bif... |
ORPHA:2437 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abdominal situs inversus |
ORPHA:2062 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Hepatic cysts, Dextrocardia, Hepatomegaly, Jaundice |
OMIM:613095 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... |
OMIM:620570 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Ventriculomegaly, Aganglionic megacolon, Hydrocephalus, High palate, Partial agenesis of the corp... |
OMIM:304100 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis |
OMIM:615434 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Ventriculomegaly, Gastroesophageal reflux, Abnormal heart morphology, Abnormal aortic valve morph... |
ORPHA:261197 |
| Renpenning Syndrome |
|
High, narrow palate, Severe short stature, Heterotaxy, Anal atresia, Growth delay, Cleft palate |
ORPHA:3242 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus |
OMIM:300884 |
| Congenital Toxoplasmosis |
|
Ventriculomegaly, Intrauterine growth retardation, Cardiomegaly, Hydrocephalus, Hepatomegaly, Jau... |
ORPHA:858 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619302 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia |
OMIM:241600 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Azoospermia, Mitral valve prolapse, Hydrocephalus, Short stature |
ORPHA:2183 |
| Ciliary Dyskinesia, Primary, 46 |
|
Ciliary dyskinesia |
OMIM:619436 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Gómez-López-Hernández Syndrome |
|
Short stature, Hydrocephalus |
ORPHA:1532 |
| Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Glossoptosis, Abdominal situs inversus, Proportionate short stature |
ORPHA:2108 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
| Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Hepatosplenomegaly, Intrauterine growth retardation, Splenomegaly, CSF lymphocy... |
OMIM:610333 |
| Pseudotrisomy 13 Syndrome |
|
Median cleft palate, Complete atrioventricular canal defect, Encephalocele, Ventricular septal de... |
OMIM:264480 |
| Ciliary Dyskinesia, Primary, 21 |
|
Ciliary dyskinesia |
OMIM:615294 |
| Fried Syndrome |
|
High palate, Hydrocephalus |
ORPHA:85335 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:619301 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Intrauterine growth retardation, Abnormal lateral ventricle morphology, Growth delay |
ORPHA:488635 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Hydrocephalus, Cleft palate |
OMIM:258320 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Agenesis of corpus callosum, Ventricular septal defect, Hydrocephalus, Short st... |
OMIM:218350 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Short stature, Ciliary dyskinesia |
ORPHA:1882 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Intestinal malrotation, Dextrotransposition of the grea... |
OMIM:619657 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... |
OMIM:619702 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Agenesis of corpus callosum, Aganglionic megacolon, Hydrocephalus, Dextrocardia, C... |
ORPHA:220493 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
| Mosaic Trisomy 9 |
|
Ventriculomegaly, Intestinal malrotation, Abnormal heart valve morphology, Intrauterine growth re... |
ORPHA:99776 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Nephronophthisis 2 |
|
Situs inversus totalis |
OMIM:602088 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... |
ORPHA:247585 |
| Meckel Syndrome |
|
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Situs inversus totalis, Ence... |
ORPHA:564 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Neurooculorenal Syndrome |
|
Ventriculomegaly, Anteriorly placed anus, Intestinal malrotation, Tetralogy of Fallot with pulmon... |
OMIM:620305 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Intestinal malrotation, Tetralogy of Fallot, Heterotaxy, Submucous cleft ... |
ORPHA:3426 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia |
OMIM:616726 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:614120 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Dextrocardia, Ventricular septal defect |
OMIM:618067 |
| Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Vacterl Association With Hydrocephalus |
|
Abnormal heart morphology, Hydrocephalus, Stillbirth, Aqueductal stenosis, Anal atresia |
OMIM:276950 |
| Biemond Syndrome Type 2 |
|
Short stature, Delayed puberty, Hydrocephalus |
ORPHA:141333 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia, Tremor |
OMIM:608093 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus, Cleft palate |
ORPHA:945 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... |
OMIM:220210 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Polysplenia, Atrioventricular canal defect, Dextrotransp... |
OMIM:613751 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... |
OMIM:603553 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Short stature, Atrial septal defect, Lateral ventricle dilatation, Ventricular septal defect |
OMIM:618330 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Increased CSF lactate, Intrauterine growth retardation, Increased CSF lysine co... |
OMIM:616034 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Ventriculomegaly, Dilated cardiomyopathy, Hydrocephalus |
ORPHA:272 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Ventricular septal defect |
OMIM:616816 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus |
OMIM:300886 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Cardiomegaly, Hydrocephalus, Hepatomegaly, High palate |
OMIM:269920 |
| 3C Syndrome |
|
High, narrow palate, Aortic valve stenosis, Ventriculomegaly, Gastroesophageal reflux, Hypoplasti... |
ORPHA:7 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Agenesis of corpus callosum, Ventricular septal defect, Tracheoesophageal fistula, Esophageal atr... |
ORPHA:77298 |
| Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Anencephaly, Hydroceph... |
OMIM:611134 |
| 1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Intestinal malrotation, Agenesis of corpus callosum, Hydrocephalus, Abnormal ca... |
ORPHA:238769 |
| Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Dextr... |
ORPHA:2315 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Hydrocephalus, Ventricular septal defect |
OMIM:602501 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Coach Syndrome 2 |
|
Hepatic fibrosis, Portal fibrosis, Congenital hepatic fibrosis, Agenesis of corpus callosum, Hydr... |
OMIM:619111 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Si... |
ORPHA:3097 |
| Ellis Van Creveld Syndrome |
|
Neonatal short-limb short stature, Atrioventricular canal defect, Abnormal heart valve morphology... |
ORPHA:289 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Ventriculomegaly, Cholestasis, Splenomegaly, Ventricular septal defect, Hydroce... |
OMIM:615630 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Hydrocephalus, Cardiomyopathy |
OMIM:613155 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Celiac disease, Hydrocephalus |
OMIM:248000 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus |
ORPHA:397951 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Agenesis of corpus callosum, Left ventricular hypertrophy, Hydrocephalus, Dandy... |
OMIM:613153 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Short stature, Hydrocephalus |
OMIM:618174 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Ventriculomegaly, Ileus, Agenesis of corpus callosum, Colpocephaly, Hydrocep... |
OMIM:620156 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| 8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Abnormal heart morphology, Tetralogy of Fallot, Agenesis of corpus callosum,... |
ORPHA:96092 |
| Temple Syndrome |
|
Short stature, Bifid uvula, Hydrocephalus, Postnatal growth retardation |
ORPHA:254516 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Lateral ventricle dilatation, Cholestasis, Congenital h... |
OMIM:619534 |
| Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:203450 |
| Triploidy |
|
Intestinal malrotation, Abnormality of the gallbladder, Intrauterine growth retardation, Abnormal... |
ORPHA:3376 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... |
OMIM:620315 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia |
ORPHA:199296 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Lateral ventricle dilatation, Anteriorly placed anus, Intrauterine growth re... |
OMIM:612863 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Short stature, Hydrocephalus |
ORPHA:1516 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:618577 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, High palate, Dextrocardia, Agenesis of corpus callosum |
OMIM:618929 |
| Ring Chromosome 7 Syndrome |
|
Bifid uvula, Ventriculomegaly, Situs inversus totalis, Median cleft palate, Severe intrauterine g... |
ORPHA:1449 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Tracheoesophageal fistula, Atrial septal defect, Dextrocardia, High palate, Hepatomegaly, Glossit... |
OMIM:277380 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
| Martsolf Syndrome 2 |
|
Short stature, Lateral ventricle dilatation |
OMIM:619420 |
| Greig Cephalopolysyndactyly Syndrome |
|
Ventriculomegaly, Abnormal heart morphology, Agenesis of corpus callosum, Hydrocephalus, Atrial s... |
OMIM:175700 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... |
ORPHA:26793 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Ventriculomegaly, Cholestasis, Intrauterine growth retardati... |
OMIM:614576 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus, Dextrocardia, Pyloric stenosis |
ORPHA:1571 |
| Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251915 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Thanatophoric Dysplasia Type 2 |
|
Ventriculomegaly, Encephalocele, Hydrocephalus, Atrial septal defect, Short stature, Holoprosence... |
ORPHA:93274 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2182 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Gastroesophageal reflux, Lateral ventricle dilatation, Increased CSF lactate, A... |
ORPHA:79243 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
| Primary Pulmonary Hypoplasia |
|
Intrauterine growth retardation, Secundum atrial septal defect, Cleft palate, Dextrocardia |
ORPHA:2257 |
| Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus, Pyloric stenosis |
OMIM:616355 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Short stature, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Agenesis of corpus callosum, ... |
OMIM:225790 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Occipital encephalocele, Hydrocephalu... |
OMIM:607361 |
| Pagod Syndrome |
|
Hypoplastic left heart, Abnormality of the spleen, Situs inversus totalis, Encephalocele, Spina b... |
ORPHA:991 |
| Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Intrauterine growth retardation, Ventricular septal defect, Tracheoesophageal f... |
OMIM:300514 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Meckel diverticulum, Hydrocephalus, Dysphagia, Dandy-Walker malformation |
ORPHA:163961 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Short stature, High palate, Hydrocephalus |
OMIM:300558 |
| Thanatophoric Dysplasia |
|
Ventriculomegaly, Disproportionate short-limb short stature, Intrauterine growth retardation, Hyd... |
ORPHA:2655 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation, Lobulated tongue |
OMIM:613443 |
| Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
| Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia |
ORPHA:247353 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
| Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Ventriculomegaly, Hydrocephalus |
ORPHA:2770 |
| Bresek Syndrome |
|
Intrauterine growth retardation, Neonatal death, Aganglionic megacolon, Hydrocephalus, Growth del... |
ORPHA:85284 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Ventriculomegaly, Secundum atrial septal defect, Tracheal stenosis, Intrauterine growth retardati... |
OMIM:620183 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Secundum atrial septal defect, Abdominal situs inversus, Muscular ventric... |
OMIM:142900 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Anorectal anomaly, Abnormality of the spleen, Abnormality of the liver, ... |
ORPHA:1834 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:109120 |
| Aase-Smith Syndrome I |
|
Dandy-Walker malformation, Hydrocephalus, Cleft palate, Ventricular septal defect |
OMIM:147800 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia |
OMIM:619381 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Atrial septal defect,... |
OMIM:615219 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Hydrocephalus, Splenomegaly, Pericarditis |
ORPHA:163596 |
| Isolated Cleft Lip |
|
Situs inversus totalis, Velopharyngeal insufficiency |
ORPHA:199302 |
| Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Coronary artery fistula, Intrauterine growth retardation, Ventricular septal defect,... |
OMIM:614294 |
| Alexander Disease Type I |
|
Dysphagia, Hydrocephalus |
ORPHA:363717 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Ventriculomegaly, Gastroesophageal reflux, Intestinal malrotation, Intraut... |
OMIM:609029 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Bifid uvula, Ventriculomegaly, Gastroesophageal reflux, Growth delay, Intr... |
ORPHA:96170 |
| Griscelli Syndrome |
|
Hepatitis, Splenomegaly, Encephalocele, Hydrocephalus, Hepatomegaly, Jaundice, Short stature, Pyl... |
ORPHA:381 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia |
ORPHA:1667 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Alg2-Cdg |
|
Hepatomegaly, Lateral ventricle dilatation |
ORPHA:79326 |
| Pallister-Hall-Like Syndrome |
|
Microglossia, Occipital encephalocele, Hydrocephalus, Short stature, Cleft palate |
OMIM:241800 |
| Metatropic Dysplasia |
|
Severe short stature, Hydrocephalus, Cleft palate |
ORPHA:2635 |
| Meacham Syndrome |
|
Accessory spleen, Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Ventricular sept... |
OMIM:608978 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Dilated fourth ventricle, Agenesis of ... |
ORPHA:370959 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
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Lateral ventricle dilatation |
OMIM:619972 |
| Vitamin K Antagonist Embryofetopathy |
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Myelomeningocele, Macroglossia, Intrauterine growth retardation, Hydrocephalus |
ORPHA:1914 |
| Chiari Malformation Type Ii |
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Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... |
OMIM:207950 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Ventriculomegaly, Gastroesophageal reflux, Intrauterine growth retardation, Colpocephaly, Hydroce... |
OMIM:619833 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
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Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
| Melanosis, Neurocutaneous |
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Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Hydrolethalus |
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Bifid uvula, Submucous cleft hard palate, Agenesis of corpus callosum, Tracheal atresia, Hydrocep... |
ORPHA:2189 |
| Hydrocephalus, Congenital, 4 |
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Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Temple Syndrome |
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Bifid uvula, Intrauterine growth retardation, Hydrocephalus, Short stature, High palate, Cleft pa... |
OMIM:616222 |
| 6P22 Microdeletion Syndrome |
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Hydrocephalus |
ORPHA:251046 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
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Lateral ventricle dilatation |
OMIM:615889 |
| Weiss-Kruszka Syndrome |
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Ventriculomegaly, Dextrotransposition of the great arteries, Ventricular septal defect, Agenesis ... |
OMIM:618619 |
| Alg8-Cdg |
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Hyponatremia |
ORPHA:79325 |
| Total Anomalous Pulmonary Venous Return 1 |
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Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
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Aortic valve stenosis, Agenesis of corpus callosum, Atrial septal defect, Hydrocephalus, Short st... |
ORPHA:459061 |
| Diabetic Embryopathy |
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Spinal dysraphism, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great art... |
ORPHA:1926 |
| Williams-Beuren Region Duplication Syndrome |
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Short stature, Ventriculomegaly, High palate, Hydrocephalus |
OMIM:609757 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Bifid uvula, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Protruding tongue, Ven... |
OMIM:612938 |
| Tetrasomy 15Q26 |
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Intrauterine growth retardation, Hydrocephalus, Atrial septal defect, High palate, Dandy-Walker m... |
OMIM:614846 |
| Nephronophthisis 18 |
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Cholestasis, Portal fibrosis, Hydrocephalus |
OMIM:615862 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia |
OMIM:613090 |
| L1 Syndrome |
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Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Distal Duplication 5Q |
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Short stature, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Ventricular septal defect |
ORPHA:96097 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
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Hydrocephalus |
OMIM:616521 |
| Optic Pathway Glioma |
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Growth delay, Hydrocephalus |
ORPHA:2086 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
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Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Radial Aplasia, X-Linked |
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Anal atresia, Hydrocephalus |
OMIM:312190 |
| Lowry-Maclean Syndrome |
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High, narrow palate, Abnormality of the abdominal organs, Atrioventricular canal defect, Intraute... |
ORPHA:2409 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
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High, narrow palate, Hydrocephalus |
ORPHA:2181 |
| Cholera |
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Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia |
ORPHA:173 |
| Genitopalatocardiac Syndrome |
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Abnormal mesentery morphology, Abnormality of the gallbladder, Intrauterine growth retardation, H... |
ORPHA:2075 |
| Rhombencephalosynapsis |
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Ventriculomegaly, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, Hydroceph... |
ORPHA:59315 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
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Growth delay, Lateral ventricle dilatation, Cleft palate |
OMIM:615716 |
| Blepharocheilodontic Syndrome 1 |
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Neural tube defect |
OMIM:119580 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
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Hydrocephalus |
ORPHA:99947 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
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Lateral ventricle dilatation, Dilated fourth ventricle, Ventricular septal defect, Severe postnat... |
ORPHA:3078 |
| Isotretinoin-Like Syndrome |
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Aortic valve stenosis, Abnormal cardiac ventricle morphology, Gastroesophageal reflux, Postnatal ... |
ORPHA:2306 |
| Laryngotracheoesophageal Cleft Type 4 |
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Abnormal mesentery morphology, Abnormality of the spleen, Tracheal stenosis, Tracheoesophageal fi... |
ORPHA:93941 |
| Bilateral Generalized Polymicrogyria |
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Gastroesophageal reflux, Lateral ventricle dilatation, Oral-pharyngeal dysphagia, Short stature, ... |
ORPHA:208447 |
| Houge-Janssens Syndrome 2 |
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Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:616362 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
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Partial agenesis of the corpus callosum, Postnatal growth retardation, Intrauterine growth retard... |
OMIM:620113 |
| Thakker-Donnai Syndrome |
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Tetralogy of Fallot, Intrauterine growth retardation, Communicating hydrocephalus, Ventricular se... |
ORPHA:1780 |
| Combined Oxidative Phosphorylation Deficiency 3 |
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Hyperammonemia, Tremor, Elevated circulating creatine kinase concentration, Hyponatremia, Dystonia |
OMIM:610505 |
| Methylcobalamin Deficiency Type Cble |
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Ventriculomegaly, Postnatal growth retardation, Abnormality of the liver, Intrauterine growth ret... |
ORPHA:2169 |
| D-2-Hydroxyglutaric Aciduria 1 |
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Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral ventricle dilata... |
OMIM:600721 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
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Lateral ventricle dilatation, Dextrotransposition of the great arteries, Ventricular septal defec... |
OMIM:619995 |
| Adrenal Hypoplasia, Congenital |
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Hyponatremia |
OMIM:300200 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
| Isotretinoin Embryopathy-Like Syndrome |
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Conotruncal defect, Hydrocephalus, Cleft palate |
OMIM:243440 |
| Halperin-Birk Syndrome |
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Ventriculomegaly, Gastroesophageal reflux, Semilobar holoprosencephaly, Pseudobulbar paralysis, I... |
OMIM:618651 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Lateral ventricle dilatation, Dilated fourth ventricle, Intrauterine growth retardation, Ventricu... |
OMIM:617751 |
| Alg3-Cdg |
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Cardiomyopathy, Neural tube defect |
ORPHA:79321 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
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Colpocephaly |
OMIM:618731 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
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Ventriculomegaly, Hydrocephalus, Atrial septal defect, Ventricular septal defect |
OMIM:603387 |
| Mucopolysaccharidosis, Type Ii |
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Severe short stature, Intestinal pseudo-obstruction, Abnormal heart valve morphology, Hepatosplen... |
OMIM:309900 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
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Lateral ventricle dilatation |
OMIM:617668 |
| Focal Facial Dermal Dysplasia Type Iv |
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Hydrocephalus, Cleft palate |
ORPHA:398189 |
| Chromosome 6Pter-P24 Deletion Syndrome |
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Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Agenesis of corpus callosum... |
OMIM:612582 |
| Desmosterolosis |
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Severe short stature, Bifid uvula, Ventriculomegaly, Intestinal malrotation, Intrauterine growth ... |
ORPHA:35107 |
| Adams-Oliver Syndrome 2 |
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Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Microphthalmia-Brain Atrophy Syndrome |
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Lateral ventricle dilatation |
ORPHA:77299 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
| Chédiak-Higashi Syndrome |
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Increased circulating ferritin concentration, Tremor, Hyponatremia, Hypertriglyceridemia, Hypopro... |
ORPHA:167 |
| Renpenning Syndrome 1 |
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Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect, Anal atresia, Atrial sept... |
OMIM:309500 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Cholelithiasis, Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Short stature... |
OMIM:614886 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Short stature, Intrauterine growth retardation, Rhizomelia, Hydrocephalus |
OMIM:300863 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
| Renal Hypoplasia, Bilateral |
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Hyponatremia, Hyperkalemia |
ORPHA:97362 |
| Trisomy 17P |
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