| Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Absent inner dynein arms, Situs inversus totalis, Absent outer dyn... |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 14 |
|
Neonatal respiratory distress, Absent inner dynein arms, Situs inversus totalis, Wheezing, Abnorm... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Immot... |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Absent outer dy... |
OMIM:616037 |
| Ciliary Dyskinesia, Primary, 28 |
|
Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Situs inversus tota... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... |
OMIM:616481 |
| Ciliary Dyskinesia, Primary, 17 |
|
Dextrocardia, Dynein arm defect of respiratory motile cilia, Situs inversus totalis, Bronchiectas... |
OMIM:614679 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chro... |
OMIM:614017 |
| Ciliary Dyskinesia, Primary, 12 |
|
Neonatal respiratory distress, Short stature, Situs inversus totalis, Chronic pulmonary obstructi... |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Bronc... |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Bronchiectasis, Noncommunicating hydrocephalus, ... |
OMIM:618699 |
| Ciliary Dyskinesia, Primary, 26 |
|
Neonatal respiratory distress, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, ... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... |
OMIM:618063 |
| Ciliary Dyskinesia, Primary, 22 |
|
Neonatal respiratory distress, Nasal polyposis, Dextrocardia, Situs inversus totalis, Bronchiecta... |
OMIM:615444 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... |
OMIM:615451 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Nasal polyposis, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiec... |
OMIM:606763 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... |
OMIM:615481 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou... |
OMIM:619607 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Cilia... |
OMIM:612518 |
| Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:608644 |
| Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Immo... |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 25 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Chronic pu... |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 15 |
|
Neonatal respiratory distress, Nasal polyposis, Situs inversus totalis, Wheezing, Abnormal axonem... |
OMIM:613808 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Chronic co... |
OMIM:620197 |
| Ciliary Dyskinesia, Primary, 27 |
|
Neonatal respiratory distress, Situs inversus totalis, Bronchiectasis, Decreased nasal nitric oxi... |
OMIM:615504 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... |
OMIM:605376 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia, ... |
OMIM:620032 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs inversus, Tr... |
OMIM:614779 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Situs inversus totalis, Recurre... |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Nasal polyposis, Situs inversus totalis, Recurrent pneumonia, Bron... |
OMIM:608647 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Situs inversus totalis, Absent outer dyn... |
OMIM:244400 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:300991 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Bro... |
ORPHA:244 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotranspo... |
OMIM:306955 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Short stature, Bronchiectasis, Decreased nasal nitric oxide, Abnor... |
OMIM:612649 |
| Dextrocardia |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of the spleen, Hydrocep... |
ORPHA:1666 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Abdominal... |
OMIM:617205 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... |
ORPHA:1908 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Short stature, Dextrocardia, Reduced forced expiratory volume in one second, Situs... |
OMIM:613686 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
| Colonic Atresia |
|
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... |
ORPHA:1198 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Transposit... |
OMIM:314390 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Double outlet right ventricle,... |
OMIM:618254 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... |
OMIM:615067 |
| Ciliary Dyskinesia, Primary, 6 |
|
Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary motility, Recurrent sinusitis, Ci... |
OMIM:610852 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... |
OMIM:617091 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft pala... |
OMIM:202650 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, High palate, Po... |
OMIM:612776 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum, Hydrocephalus, Rhizomelia |
OMIM:166990 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Situs inversus totalis, Cryptorchidism, Cardiomyopathy,... |
OMIM:249270 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cryptorchidism, Cleft palate, Abdominal situs inversus, Pulm... |
OMIM:619123 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Cholestasis, Periportal fibrosis, Aortic valve stenosis, Pulmonic stenosi... |
OMIM:615382 |
| Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms |
OMIM:618801 |
| Lissencephaly 4 |
|
Growth delay, Agenesis of corpus callosum, Colpocephaly, Short stature |
OMIM:614019 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... |
OMIM:242670 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Asplenia... |
OMIM:270100 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Dextrocardia, Meningocele, Respiratory insufficiency, Duode... |
ORPHA:1759 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis |
OMIM:619881 |
| Joubert Syndrome |
|
Encephalocele, Apnea, Episodic tachypnea, Aganglionic megacolon, Situs inversus totalis, Hydrocep... |
ORPHA:475 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Decreased ... |
OMIM:619608 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Situs inversus totalis, Holoprosencephaly, Microglossia, Agenesis of corpus... |
ORPHA:990 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Choroid plexus cyst, Biliary cirrh... |
OMIM:267010 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology |
OMIM:215520 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... |
OMIM:615294 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Atrial septal defect, Dandy-Walker malformation, Hepa... |
OMIM:208540 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough |
OMIM:615434 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
| Masa Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:303350 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Short stature, Dextrocardia, Cryptorchidism, High palate, Anal atresia |
ORPHA:2863 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| 1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Gastroesophageal reflux |
ORPHA:250994 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology |
ORPHA:2185 |
| Familial Visceral Myopathy |
|
Aganglionic megacolon, Abdominal situs inversus, Cleft palate |
ORPHA:2604 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis |
OMIM:615872 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology |
OMIM:225050 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Jaundice |
OMIM:129850 |
| Hallermann-Streiff Syndrome |
|
Proportionate short stature, Cryptorchidism, High, narrow palate, Respiratory insufficiency, Glos... |
ORPHA:2108 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Marden-Walker Syndrome |
|
Severe short stature, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric st... |
ORPHA:2461 |
| Marden-Walker Syndrome |
|
Dextrocardia, Postnatal growth retardation, Cryptorchidism, High, narrow palate, Pyloric stenosis... |
OMIM:248700 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Colpocephaly |
OMIM:614870 |
| Nephronophthisis 2 |
|
Situs inversus totalis, Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal heart valve morphology, Cryptorchidism, Abnormality of the gallbladder, Cleft palate, Ab... |
ORPHA:280 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosi... |
OMIM:610333 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia |
OMIM:616726 |
| Renpenning Syndrome |
|
Severe short stature, High, narrow palate, Cleft palate, Growth delay, Heterotaxy, Decreased test... |
ORPHA:3242 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Apnea, Dextrocardia, Aganglionic megacolon, Hydrocephalus, Cleft palate, Agenesis ... |
ORPHA:220493 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Pulmonic stenosis, Mitral valve prolapse |
OMIM:609008 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology, Respira... |
OMIM:276950 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Hydrocephalus, Myelomeningocele, Tracheoesophageal fistula, High pala... |
ORPHA:2437 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abdominal situs inversus |
ORPHA:2062 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts |
OMIM:613095 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Dextrocardia, Secundum atrial septal defect, Asthma, Tachyp... |
ORPHA:2257 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum, High palate, Ventr... |
OMIM:304100 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus |
OMIM:300884 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Hydrocephalus, Jaundice, Intrauterine growth retardation, Ventriculom... |
ORPHA:858 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus |
OMIM:619302 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... |
OMIM:264480 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Abnormal aortic valve mo... |
ORPHA:261197 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short stature, High, narrow palate, Hydrocephalus, Mitral valve prolapse, Azoospermia |
ORPHA:2183 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
| Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Lateral ventricle dilatation, V... |
OMIM:616816 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Short stature, Intestinal malrotation, Tachypnea, Submucous cleft hard... |
ORPHA:3426 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1532 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Short stature, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Agenes... |
OMIM:218350 |
| Fried Syndrome |
|
Hydrocephalus, High palate |
ORPHA:85335 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Growth delay, Intrauterine growth retardation, Abnormal lateral ventricle morphology |
ORPHA:488635 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Left Isomerism, Situs inversus... |
OMIM:619702 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia, Short stature |
ORPHA:1882 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Short stature, Intestinal malrotation, Asplenia, Partial... |
OMIM:619657 |
| Mosaic Trisomy 9 |
|
Ventriculomegaly, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina... |
ORPHA:99776 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Meckel Syndrome |
|
Encephalocele, Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Situs inv... |
ORPHA:564 |
| Neurooculorenal Syndrome |
|
Dextrocardia, Intestinal malrotation, Postnatal growth retardation, Aqueductal stenosis, Partial ... |
OMIM:620305 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Hydrocephalus, Apneic episodes in infancy, Hepatic fibrosis, Portal ... |
OMIM:619111 |
| Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Short stature, Delayed puberty |
ORPHA:141333 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dysphagia, Da... |
ORPHA:163961 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Respiratory insufficiency, Left ventricular hypertrophy, Dandy-Walker malformation... |
OMIM:613153 |
| Ritscher-Schinzel Syndrome 1 |
|
Anal atresia, Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft pala... |
OMIM:220210 |
| Acalvaria |
|
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
| Johanson-Blizzard Syndrome |
|
Short stature, Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, ... |
ORPHA:2315 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter... |
OMIM:616034 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Lateral ventricle dilatation, Ventricular septal defect, Short stature |
OMIM:618330 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Abnormality of the spleen, Ano... |
ORPHA:3097 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
| 3C Syndrome |
|
Anal atresia, Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morphology, Shor... |
ORPHA:7 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesophageal f... |
ORPHA:77298 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, High, narrow palate, Hydrocephalus, Dysplastic tricuspid valve, Submucous c... |
OMIM:612863 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, High palate |
OMIM:269920 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... |
OMIM:619534 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Cryptorchidism, High palate, Atrioventricular canal defect, Agenesis of corpus call... |
OMIM:618929 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Atrial... |
ORPHA:93274 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... |
OMIM:611134 |
| 1Q44 Microdeletion Syndrome |
|
Short stature, Intestinal malrotation, Hydrocephalus, Growth delay, Abnormal cardiac septum morph... |
ORPHA:238769 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Ventricular septal defect, Partial agenesis of the corpus callosum... |
ORPHA:79243 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Short stature |
OMIM:618174 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:602501 |
| Temple Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Bifid uvula |
ORPHA:254516 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Hydrocephalus, Cholestasis,... |
OMIM:615630 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Cryptorchidism, High, narrow palate, Abnormal heart morphology, Aplasia/Hypoplasia ... |
ORPHA:96092 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Lateral ventricle dilatation |
OMIM:300982 |
| Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Agenesis of corpus callosum, Ventriculo... |
OMIM:175700 |
| Triploidy |
|
Hepatomegaly, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Meningocele, Abnormality of ... |
ORPHA:3376 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| Ring Chromosome 7 Syndrome |
|
Short stature, Situs inversus totalis, Cleft palate, Hydrocele testis, Holoprosencephaly, Severe ... |
ORPHA:1449 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Pagod Syndrome |
|
Encephalocele, Short stature, Spina bifida, Situs inversus totalis, Abnormality of the spleen, Me... |
ORPHA:991 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Hydrocephalus, Ileus, Growth delay, Colpocephaly, High palate, Agenesis of c... |
OMIM:620156 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Short stature |
ORPHA:1516 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Neonatal asphyxia, Lateral ventricle dilatation |
ORPHA:306669 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Respiratory insufficiency, Disproportionate short-limb short stature, Atrial septa... |
ORPHA:2655 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Short stature, Dextrocardia, Tracheoesophageal fistula, High palate, Atrial septal ... |
OMIM:277380 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Short stature |
OMIM:619420 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Esophageal varix, Cholestas... |
OMIM:614576 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Short stature, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:2701 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Bresek Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Hydrocephalus, Cleft palate, Growth delay, Neonatal death,... |
ORPHA:85284 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus, Pyloric stenosis, Dextrocardia |
ORPHA:1571 |
| Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele, Respiratory insufficiency, Macroglossia, Intrauterine growth ret... |
ORPHA:1914 |
| Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Dysphagia, Agenesis of corpus... |
OMIM:207950 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Pyloric stenosis, Ventriculomegaly |
OMIM:616355 |
| Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Short stature, Cryptorchidism, Cleft palate, Growth dela... |
OMIM:614294 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hepatomegaly, Malformation of the hepatic ductal plate, Hydrocephalus, C... |
OMIM:607361 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Cleft palate, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker malfo... |
OMIM:225790 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
High palate, Hydrocephalus, Short stature |
OMIM:300558 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lobulated tongue, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
| Emanuel Syndrome |
|
Anal atresia, Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Cryptorchidism, Hy... |
ORPHA:96170 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Growth d... |
OMIM:300514 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
| Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of the testis size |
ORPHA:649929 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| Joubert Syndrome 3 |
|
Central apnea, Enlarged fossa interpeduncularis, Episodic tachypnea, Lateral ventricle dilatation... |
OMIM:608629 |
| Scimitar Syndrome |
|
Respiratory distress, Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous ... |
ORPHA:185 |
| Emanuel Syndrome |
|
Anal atresia, Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Intestinal malrota... |
OMIM:609029 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation, Dysphagia, Respiratory insufficiency, Intercostal muscle weakness |
OMIM:607596 |
| Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Short stature, Cryptorchidism, Aplasia/Hypoplasia of the... |
ORPHA:96097 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation, Respiratory insufficiency |
OMIM:617668 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:109120 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
| Myopathy, Centronuclear, X-Linked |
|
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... |
OMIM:310400 |
| Isolated Cleft Lip |
|
Situs inversus totalis, Velopharyngeal insufficiency |
ORPHA:199302 |
| Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Apnea, Decreased CSF glutamine concentration, Subependymal cysts, ... |
OMIM:610015 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Apnea, Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Inspiratory stridor |
OMIM:600721 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Aase-Smith Syndrome I |
|
Cleft palate, Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation |
OMIM:147800 |
| Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Abnormality of the spleen, Hydrocephalus, Anorectal anomaly, Tracheoesophageal fis... |
ORPHA:1834 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Hydrocephalus |
ORPHA:163596 |
| Temple Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, Cleft palate, Bifid uvula, High palate, Intrauterin... |
OMIM:616222 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Ventricular septal defect, Severe postnatal growth retardation, Lateral... |
ORPHA:3078 |
| Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Short stature, Intestinal ps... |
OMIM:309900 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Alexander Disease Type I |
|
Hydrocephalus, Dysphagia |
ORPHA:363717 |
| Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Short stature, Pyloric stenosis, Hydrocephalus, Splenomegaly, Jaundi... |
ORPHA:381 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Agenesis of corpu... |
OMIM:615219 |
| Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
| Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature, Cleft palate |
ORPHA:2635 |
| Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Bifid uvul... |
ORPHA:2189 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Cryptorchidism, Hydrocephalus, Cleft palate, Intrau... |
OMIM:612938 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Abnormality of the pancreas, Cleft pala... |
ORPHA:1926 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Short stature, Hydrocephalus, Cleft palate, Microglossia |
OMIM:241800 |
| Halperin-Birk Syndrome |
|
Aspiration, Colpocephaly, Perimembranous ventricular septal defect, Gastroesophageal reflux, High... |
OMIM:618651 |
| Alg2-Cdg |
|
Hepatomegaly, Lateral ventricle dilatation |
ORPHA:79326 |
| Williams-Beuren Region Duplication Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, High palate, Ventriculomegaly |
OMIM:609757 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Hydrocephalus, Colpocephaly, High palate, Gastroesophageal reflux, Intrauterine gr... |
OMIM:619833 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Ventricular septal defect, Bicuspid aortic valve, Recurrent pneumonia, ... |
OMIM:617751 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Macroglossia, A... |
ORPHA:370959 |
| Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp... |
OMIM:618619 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Short stature, Hydrocephalus, Cleft palate, Atrial septal defect, Aortic valve stenosis, Agenesis... |
ORPHA:459061 |
| Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, High, narrow palate, Hydrocephalus, Pyloric stenosis, Midgut malrotatio... |
ORPHA:2409 |
| Nephronophthisis 18 |
|
Hydrocephalus, Portal fibrosis, Cholestasis |
OMIM:615862 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... |
OMIM:618280 |
| Genitopalatocardiac Syndrome |
|
Cryptorchidism, Hydrocephalus, Abnormal mesentery morphology, Abnormality of the gallbladder, Cle... |
ORPHA:2075 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, High palate, Atrial septal defect, Intrauterine growth retardation, Dandy-Walker m... |
OMIM:614846 |
| Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Endoca... |
ORPHA:2119 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus, Anal atresia |
OMIM:312190 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon |
ORPHA:275543 |
| Optic Pathway Glioma |
|
Growth delay, Hydrocephalus |
ORPHA:2086 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Acute respiratory distress syndrome, Secundum atrial septal defect, Respiratory ins... |
OMIM:617397 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Partial agenesis of the c... |
OMIM:620113 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Growth delay, Lateral ventricle dilatation, Cleft palate |
OMIM:615716 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Asthma, Volvulus, Lateral ventricle dilatation, High palate, Pleural effusion, Dandy-Walker malfo... |
OMIM:618606 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:2181 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Renpenning Syndrome 1 |
|
Ventricular septal defect, Short stature, Situs inversus totalis, Cleft palate, High palate, Atri... |
OMIM:309500 |
| Bilateral Generalized Polymicrogyria |
|
Short stature, Oral-pharyngeal dysphagia, Growth delay, Lateral ventricle dilatation, Gastroesoph... |
ORPHA:208447 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Rhombencephalosynapsis |
|
Ventriculomegaly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fis... |
ORPHA:59315 |
| Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616362 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Short stature, Dextrotransposition of the great arteries, Lateral vent... |
OMIM:619995 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Hydrocephalus, Conotruncal defect |
OMIM:243440 |
| Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Hydrocephalus, Abnormality of the liver, Intrauterine growth retard... |
ORPHA:2169 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal f... |
ORPHA:1780 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Re... |
OMIM:618291 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:603387 |
| Fg Syndrome Type 1 |
|
Anal atresia, Short stature, Abnormal large intestine morphology, Malrotation of colon, Cryptorch... |
ORPHA:93932 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Cleft palate |
ORPHA:398189 |
| Alg3-Cdg |
|
Neural tube defect, Cardiomyopathy |
ORPHA:79321 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:1895 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
| Desmosterolosis |
|
Severe short stature, Intestinal malrotation, Splenomegaly, Hydrocephalus, Submucous cleft hard p... |
ORPHA:35107 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| Trisomy 1Q |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Cleft palate, Anal atresia, Agenesis of... |
ORPHA:261344 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Hydrocephalus, High palate, Atrial septal defect... |
OMIM:612582 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:93262 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:618736 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Dextrocardia, Cryptorchidism, Hydrocephalus, Jaundice, Biliary ... |
ORPHA:3310 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus |
OMIM:300863 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Cleft palate, Transposition of the great arteries, Ectopia cordis |
OMIM:313850 |
| Crouzon Syndrome |
|
Narrow palate, Hydrocephalus, Respiratory insufficiency |
ORPHA:207 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Parti... |
OMIM:619895 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure, Short stature |
ORPHA:1861 |
| Trisomy 17P |
|
Short stature, Hydrocephalus, Cleft palate, Growth delay, Macroglossia, Hypoplastic left heart, H... |
ORPHA:261290 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle morphology, Hydro... |
ORPHA:2306 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Hydrocephalus, Growth delay, Atrial septal defect, Cholelithiasis, Double outlet r... |
OMIM:614886 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Cle... |
OMIM:257300 |
| Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... |
ORPHA:974 |
| Neonatal Lupus Erythematosus |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Dilated cardiomyopathy, Cholestasis, Abnormal heart mo... |
ORPHA:398124 |
| Cach Syndrome |
|
Hepatosplenomegaly, Growth delay, Lateral ventricle dilatation, Dysphagia, Intrauterine growth re... |
ORPHA:135 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatic steatosis, Neonatal respiratory distress, Hepatomegaly, Cardiomegaly, High, narrow palate... |
ORPHA:228308 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Agenesis of corpus callosum, Colpocephaly, Atrial septa... |
OMIM:609053 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Respiratory insufficiency, Atrial septal defect, Lethal short-limbed short stature... |
ORPHA:1860 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Apnea, Aganglionic megacolon, Hydrocephalus, Cleft palate, Agenesis of corpus call... |
ORPHA:220497 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Hydrocephalus, Disproporti... |
OMIM:616482 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Short stature, Hydrocephalus, Cleft palate, Anterior... |
OMIM:309801 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Respiratory insufficie... |
OMIM:253800 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:619517 |
| Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... |
ORPHA:1335 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:601794 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Malabsorption, Myocarditis, Hydrocephalu... |
ORPHA:3452 |
| Oxoglutaric Aciduria |
|
Hydrocephalus, Short stature, Abnormal salivary gland morphology |
ORPHA:31 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... |
OMIM:619377 |
| Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Hydrocephalus, Disproportionate short-limb short stature, Neonatal... |
OMIM:187600 |
| B4Galt1-Cdg |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation |
ORPHA:284417 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:171839 |
| Carpenter Syndrome 2 |
|
Dextrocardia, Bilateral cryptorchidism, Situs inversus totalis, Cryptorchidism, High, narrow pala... |
OMIM:614976 |
| Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate, Growth delay,... |
OMIM:614424 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Short stature, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ve... |
OMIM:272200 |
| X-Linked Intellectual Disability, Wilson Type |
|
Growth delay, Lateral ventricle dilatation, Hydrocele testis |
ORPHA:85290 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Disproportionate short-trunk short stature |
OMIM:613330 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Mucopolysaccharidosis Type 1 |
|
Sinusitis, Abnormal heart valve morphology, Short stature, Apnea, Malabsorption, Splenomegaly, Hy... |
ORPHA:579 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Ab... |
ORPHA:1865 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Anal stenosis, Abnormal heart morphology |
OMIM:601499 |
| Craniosynostosis 6 |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:616602 |
| Diets-Jongmans Syndrome |
|
Ventricular septal defect, Short stature, Cryptorchidism, Heterotaxy, Duodenal atresia |
OMIM:618846 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus |
ORPHA:163966 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... |
OMIM:269860 |
| Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Hydrocephalus, High palate, Pleural effusion, Dandy-Walker malformation, Ve... |
OMIM:617822 |
| Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, High palate, Hydrocephalus, Short stature |
OMIM:616294 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Johanson-Blizzard Syndrome |
|
Colonic diverticula, Hepatomegaly, Ventricular septal defect, Short stature, Portal hypertension,... |
OMIM:243800 |
| Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Short stature, Postnatal gro... |
OMIM:253220 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, High palate, Gastroesophageal reflux, Intrauterine growth retardation, Agenesis of... |
OMIM:612940 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Agenesis of corpus callosum |
OMIM:615249 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Hydrocephalus, Tracheal stenosis, Agenesis of corpus callosum, Anal atresia |
ORPHA:3301 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, H... |
ORPHA:93259 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:219730 |
| Glutaric Acidemia I |
|
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Tenorio Syndrome |
|
Apnea, Hydrocephalus, Recurrent pneumonia, Macroglossia, Gastroesophageal reflux, Ventriculomegaly |
OMIM:616260 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Cryptorc... |
OMIM:616145 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia, Occipital meni... |
ORPHA:268810 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Fanconi Anemia, Complementation Group R |
|
Growth delay, Hydrocephalus, Anal atresia |
OMIM:617244 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, High palate |
ORPHA:2180 |
| Gracile Bone Dysplasia |
|
Short stature, Asplenia, Hydrocephalus, Hypoplastic spleen, Ankyloglossia |
OMIM:602361 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep... |
OMIM:613001 |
| Mirage Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, Esophageal stricture, Hypoplastic spleen, Gastroeso... |
OMIM:617053 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Short stature |
ORPHA:53 |
| Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Hydrocephalus, Cleft palate, Stillbirt... |
OMIM:243605 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus... |
OMIM:231005 |
| Slc35A2-Cdg |
|
Short stature, Abnormal heart morphology, Lateral ventricle dilatation, Gastroesophageal reflux, ... |
ORPHA:356961 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Respiratory insufficiency, Colpocephaly, Mitral stenosis, Agenesis of corpus callo... |
OMIM:617260 |
| Apert Syndrome |
|
Esophageal atresia, Hydrocephalus, Respiratory insufficiency, Narrow palate, Cleft palate, Ectopi... |
ORPHA:87 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Hydrocephalus, Cleft palate, Abnormal heart morphology, Anteriorly placed ... |
OMIM:239300 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Duodenal ulcer, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Cryptorchidism, Asthma, Hydrocephalus, Gastroesophageal reflux, Dilated third vent... |
ORPHA:500055 |
| Tetrasomy 5P |
|
Respiratory distress, Postnatal growth retardation, Hydrocephalus, High palate, Pulmonary arteria... |
ORPHA:3309 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Protruding tongue, Hydrocephalus, Hepatosplenomegaly, Abnormal heart morphology |
ORPHA:93400 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Allergic rhinitis, Asthma, Hydrocephalus, High palate, Atrial septal defect, Annular ... |
OMIM:618162 |
| Distal Triplication 15Q |
|
Hydrocephalus, Abnormal heart morphology, Hydrocele testis, High palate, Atrial septal defect, In... |
ORPHA:314588 |
| Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, High palate, Ventriculomegaly |
ORPHA:420179 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Chronic lung disease, Short stature, Apnea, Rhizomelic... |
ORPHA:397715 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
| Walker-Warburg Syndrome |
|
Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Dandy-Walker malformati... |
ORPHA:899 |
| Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Hydrocephalus, Myelomeningocele, Anenceph... |
ORPHA:2369 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Alobar holoprosencephaly, Submucous cleft hard palate, Cleft palate, A... |
OMIM:301043 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Aganglionic megacolon, Apnea, Hydrocephalus, Tachypnea |
ORPHA:2318 |
| Achondroplasia |
|
Rhizomelia, Hydrocephalus, Disproportionate short stature, Hypoxemia, Restrictive ventilatory defect |
ORPHA:15 |
| Opitz-Kaveggia Syndrome |
|
Anal stenosis, Short stature, Intestinal malrotation, Cryptorchidism, Partial agenesis of the cor... |
OMIM:305450 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Cleft palate, Cystic liv... |
OMIM:612284 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Gastroesophageal reflux, Lateral ventricle dilatation, High palate |
OMIM:617854 |
| Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Protruding tongue |
OMIM:620352 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Neonatal respiratory distress, Hydrocephalus, Hepatic calcification, Cardiomyopathy... |
ORPHA:157 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Short stature, Cryptorchidism, Lateral ventricle dilatation, Respiratory failure, Dysphagia |
OMIM:619847 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Tracheomalacia, Agenesis of ... |
ORPHA:268249 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Intestinal malrotation, Ventriculomegaly |
OMIM:617866 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Submucous cleft hard palate, ... |
ORPHA:457279 |
| 1Q21.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, High palate, An... |
ORPHA:250989 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hepatomegaly, Apnea, Portal hypertension, Congenital hepatic fibrosis, H... |
ORPHA:1454 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Apnea, Cryptorchidism, Hydrocephalus, High palate, Ventriculomegaly |
OMIM:614969 |
| Muenke Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:53271 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Colpocephaly, High palate, Dys... |
ORPHA:261250 |
| Hurler Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Short stature, Splenomegaly, Hydrocephalus, Growth... |
ORPHA:93473 |
| Desmosterolosis |
|
Rhizomelia, Hydrocephalus, Partial agenesis of the corpus callosum, Cleft palate, Total anomalous... |
OMIM:602398 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesop... |
ORPHA:3412 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Lateral ventricle dilatation, Patent foramen ovale |
OMIM:620075 |
| Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Cleft palate, N... |
ORPHA:2839 |
| Icf Syndrome |
|
Communicating hydrocephalus, Short stature, Malabsorption, Protruding tongue, Macroglossia |
ORPHA:2268 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Growth delay, Lateral ventricle d... |
OMIM:612301 |
| Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:377 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Short stature, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Growth delay, Respi... |
OMIM:259720 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia |
ORPHA:3016 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Respiratory insufficiency |
ORPHA:1237 |
| Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Short stature, Cryptorchidism, Submucous cleft hard pala... |
OMIM:300166 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Cryptorchidism, Hydrocephalus, Abnormality of the pancreas, Narrow palate, ... |
ORPHA:1555 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Esophageal atresia, P... |
OMIM:101200 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Severe short stature, Hydrocephalus, Cleft palate, Neonatal short-limb short stature |
OMIM:224400 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cryptorchidism, Hydrocephalus, Cleft palate, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1812 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Short stature |
ORPHA:585 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Noncommunicating hydrocephalus |
OMIM:619320 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Short stature, High, narrow palate, Hydrocephalus, Hematochezia, Later... |
OMIM:619575 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Short stature, Pneumonia, Disproportionate short-trunk sho... |
ORPHA:1855 |
| 47,Xyy Syndrome |
|
Cryptorchidism, Asthma, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
| Osteopathia Striata With Cranial Sclerosis |
|
Anal stenosis, Ventricular septal defect, Short stature, Apnea, Tracheomalacia, Intestinal malrot... |
OMIM:300373 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, High palate |
OMIM:614105 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Short stature, Postnatal growth retardation, Cryptorchidism, Cleft palate, Glossoptos... |
OMIM:611209 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature, Cryptorchidism, Hydrocephalus, M... |
OMIM:130720 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, High, narrow palate, Hydrocephalus, Mitral valve prolapse, High pa... |
OMIM:616914 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Respiratory failure, Ventriculomegaly |
OMIM:616538 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Short stature, Tracheal stenosis, Cryptorchidism, ... |
ORPHA:163979 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Cardiomyopathy, Lateral ventricle dilatation, High palate, Dysphagia, I... |
ORPHA:572798 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hydrocephalus, Narrow palate, Anteriorly placed anus, High palate, Agenesis... |
OMIM:123790 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cryptorchidism, Lateral ventricle dilatation, High palate, Dilated third ventricle, Agenesis of c... |
OMIM:619244 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation, Patent foramen ovale, Pulmonic stenosis |
OMIM:618914 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocard... |
OMIM:261740 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Hydrocephalus, Hepatosplenomegaly |
OMIM:259710 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Short stature, Secundum atrial septal defect, Bilateral cryptorch... |
ORPHA:1600 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
| Hurler Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Macroglossia, Cardi... |
OMIM:607014 |
| Fanconi Anemia, Complementation Group D2 |
|
Short stature, Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesophageal fistula, Abno... |
OMIM:227646 |
| Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
| Joubert Syndrome 2 |
|
Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Episodic tachypnea, Hydrocephalus... |
OMIM:608091 |
| Cog5-Cdg |
|
Hepatomegaly, Short stature, Cryptorchidism, Hepatosplenomegaly, Lateral ventricle dilatation, Hi... |
ORPHA:263487 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Cleft palate, Macroglossia, Agenesis of corpus callosum, Ventriculo... |
OMIM:613150 |
| Orofaciodigital Syndrome I |
|
Short stature, Hamartoma of tongue, Pancreatic cysts, Hydrocephalus, Myelomeningocele, Cleft pala... |
OMIM:311200 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Short stature, Pneumonia, Splenomegaly, Hydrocephalus, Disproportionate short-trunk... |
OMIM:253200 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Short stature, Apnea, Bilateral cryptorchidism, Cryptorchidism, Hydroc... |
OMIM:602535 |
| Noonan Syndrome 14 |
|
Short stature, Cryptorchidism, High, narrow palate, Mitral valve prolapse, Lateral ventricle dila... |
OMIM:619745 |
| Fanconi Anemia |
|
Abnormality of the liver, High palate, Atrial septal defect, Short stature, Spina bifida, Aplasia... |
ORPHA:84 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Acute pancreatitis, Portal hypertension, Pericardial effusion, Hepato... |
OMIM:619487 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Hydroce... |
ORPHA:2072 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Holoprosencephaly, At... |
OMIM:147791 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Hydrocephalus, Abnormal heart morphology, Stridor, Macroglossia, Hepatosple... |
ORPHA:505248 |
| H Syndrome |
|
Short stature, Malabsorption, Hydrocephalus, Bronchiectasis, Hepatosplenomegaly, Azoospermia, Chr... |
ORPHA:168569 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Cryptorchidism, Hydrocephalus |
OMIM:619951 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
High palate, Hydrocephalus, Short stature |
ORPHA:2720 |
| Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Short stature, Abnormal heart valve morphology, Crypto... |
ORPHA:1340 |
| Semilobar Holoprosencephaly |
|
Central apnea, Short stature, Hydrocephalus, Cleft palate, Abnormal heart morphology, Growth dela... |
ORPHA:220386 |
| Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... |
ORPHA:355 |
| Alobar Holoprosencephaly |
|
Central apnea, Short stature, Hydrocephalus, Cleft palate, Abnormal heart morphology, Growth dela... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Short stature, Hydrocephalus, Cleft palate, Abnormal heart morphology, Growth dela... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Short stature, Hydrocephalus, Cleft palate, Abnormal heart morphology, Growth dela... |
ORPHA:93924 |
| Dubowitz Syndrome |
|
Anal stenosis, Short stature, Malabsorption, Postnatal growth retardation, Cryptorchidism, Hydroc... |
ORPHA:235 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Anal atresia, Accessory sple... |
OMIM:249000 |
| Distal Deletion 10Q |
|
Short stature, Postnatal growth retardation, Cleft palate, Lateral ventricle dilatation, High pal... |
ORPHA:96148 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, Dysphagia |
ORPHA:488627 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
High palate, Bicuspid aortic valve, Dextrocardia, Short stature |
ORPHA:536545 |
| Congenital Myopathy 22A, Classic |
|
Neonatal death, Normal pressure hydrocephalus, High palate, Respiratory insufficiency |
OMIM:620351 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Postnatal growth retardation, Hydrocephalus, Narrow palate, Cleft palate, High pal... |
OMIM:605627 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Hydrocephalus, Upper airway obstruction |
OMIM:207410 |
| 15Q Overgrowth Syndrome |
|
High, narrow palate, Hydrocephalus, Pulmonary arterial hypertension, High palate, Intrauterine gr... |
ORPHA:314585 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Postnatal growth retardation, Partial agenesis of the corpus callosum, Lateral ventricle dilatati... |
ORPHA:300570 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Trisomy 8P |
|
Abnormal atrioventricular connection, Cryptorchidism, Hydrocephalus, Malrotation of small bowel, ... |
ORPHA:264450 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Splenomegaly, Hepatomegaly, Hydrocephalus |
OMIM:259700 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... |
ORPHA:63259 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Atrial septal defect, Occipital me... |
OMIM:616546 |
| Mohr Syndrome |
|
Short stature, Hydrocephalus, Cleft palate, Tongue nodules, Lobulated tongue, High palate, Bifid ... |
OMIM:252100 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Intrauterine growth retardation, Lateral ventricle dilatation, Increased CSF lactate |
ORPHA:565624 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal card... |
ORPHA:2166 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Hydrocephalus, Cleft palate, Mitr... |
OMIM:245600 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration, Lateral ventricle dilatation, Dysphagia |
ORPHA:2148 |
| Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Growth delay, Intraut... |
OMIM:614083 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Cholelithiasis, High, narrow palate, Recurrent pneumonia, Cleft palate... |
ORPHA:464738 |
| Poland Syndrome |
|
Encephalocele, Dextrocardia, Cryptorchidism, Abnormality of the liver, Atrial septal defect, Spin... |
ORPHA:2911 |
| Fraser Syndrome 3 |
|
Hydrocephalus, Stillbirth, Tracheal atresia |
OMIM:617667 |
| Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Abnormal sperm morphology, Pneumonia, CSF pleocytosis, Hydroc... |
ORPHA:228123 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Jaundice, Abnorm... |
ORPHA:79282 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Cryptorchidism, Jaundic... |
OMIM:614866 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Tachypnea, Cleft palate, Co... |
ORPHA:137675 |
| Cardiofaciocutaneous Syndrome 1 |
|
Short stature, Splenomegaly, Hydrocephalus, Submucous cleft hard palate, High palate, Gastroesoph... |
OMIM:115150 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus, Dandy-Wa... |
OMIM:614643 |
| Kabuki Syndrome 1 |
|
Anal stenosis, Ventricular septal defect, Short stature, Intestinal malrotation, Malabsorption, P... |
OMIM:147920 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Ventricular septal defect, Lateral ventricle dilatation, Gastroesophageal re... |
OMIM:619229 |
| Smith-Lemli-Opitz Syndrome |
|
Partial agenesis of the corpus callosum, Gastrointestinal dysmotility, Gastroesophageal reflux, H... |
OMIM:270400 |
| Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Malabsorption, Splenomegaly, Hydrocephalus, Upper airway obstruction,... |
ORPHA:581 |
| Achondroplasia |
|
Respiratory distress, Rhizomelia, Hydrocephalus, Upper airway obstruction, Neonatal short-limb sh... |
OMIM:100800 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Short stature, Pericardial effusion, Postnatal growth retardation, Hydrocephalus, C... |
ORPHA:1272 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1064 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Cryptorchidism, Cleft palate, Anal ... |
OMIM:236670 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Hydrocephalus, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, High palate, Mitral valve prolapse |
OMIM:104350 |
| Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Hydrocephalus, Oligozoospermia, Delayed puberty |
ORPHA:91348 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Splenomegaly, Hydrocephalus |
ORPHA:2969 |
| Rabin-Pappas Syndrome |
|
Tracheomalacia, Hypoventilation, Hydrocephalus |
OMIM:620155 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:617296 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Growth delay, Cardiomyopathy, Communicating hydrocephalus, Splenomegaly |
OMIM:616084 |
| Pfeiffer Syndrome |
|
Hydrocephalus, High palate |
OMIM:101600 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Bilateral cryptorchidism, Dysplastic corpus callosum, Asthma, Celiac disease, Lateral ventricle d... |
ORPHA:544488 |
| Endocrine-Cerebroosteodysplasia |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Median cleft palat... |
OMIM:612651 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Short stature, Cryptorchidism, Hydrocephalus, Disproportionate... |
OMIM:101800 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Apnea, Ventriculomegaly |
ORPHA:395 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Short stature, Postnatal growth retardation, Jaundice, Hepatosplenom... |
ORPHA:168577 |
| Holoprosencephaly |
|
Encephalocele, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve m... |
ORPHA:2162 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly |
OMIM:613603 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Dyspnea, Hydrocephalus, Pneumothorax, Chylopericardium, Restrictive ... |
ORPHA:538 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Lateral ventricle dilatation, Dilated cardiomyopathy, Agenesis of co... |
OMIM:300952 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Disproportionate s... |
OMIM:210710 |
| Khan-Khan-Katsanis Syndrome |
|
Short stature, Colpocephaly, Dysphagia, Intrauterine growth retardation, Patent foramen ovale, Ve... |
OMIM:618460 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Crouzon Syndrome |
|
Hydrocephalus, High palate |
OMIM:123500 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Hydrocephalus, Respi... |
ORPHA:536467 |
| Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, High palate, Dysphagia, Agenesis o... |
ORPHA:58 |
| Aicardi Syndrome |
|
Spina bifida, Hiatus hernia, Postnatal growth retardation, Partial agenesis of the corpus callosu... |
OMIM:304050 |
| Costello Syndrome |
|
Ventricular septal defect, Short stature, Tracheomalacia, Pyloric stenosis, Hydrocephalus, Pneumo... |
OMIM:218040 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Hydrocephalus, Dilated cardiomyopathy, Mitra... |
ORPHA:2556 |
| 22Q11.2 Deletion Syndrome |
|
Anorectal anomaly, Gastroesophageal reflux, Atrial septal defect, Short stature, Spina bifida, Cr... |
ORPHA:567 |
| 7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Short stature, Tracheomalacia, Cryptorchidism, Hydrocephalus, Growth d... |
ORPHA:96121 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Apnea, Cryptorchidism, High, narrow palate, Mitral valve prolapse, A... |
ORPHA:2462 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Mend Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morphology, High palat... |
ORPHA:401973 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly,... |
OMIM:236680 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal heart valve morphology, Hydrocephalus, Myelomeningocele, Cleft palate, Gl... |
ORPHA:90652 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Peritonitis, Cirrhosis, Cough, Pleural e... |
ORPHA:1546 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Partial agenesis o... |
OMIM:610828 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Resting tremor, Head tremor |
ORPHA:314404 |
| Restrictive Dermopathy |
|
Dextrocardia, Submucous cleft hard palate, Transposition of the great arteries, Atrial septal def... |
ORPHA:1662 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Growth delay, Hydrocephalus, Achalasia, Short stature |
OMIM:616007 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancreatic fibrosis, Clef... |
OMIM:263520 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus, High palate |
OMIM:618590 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules, Dysphagia |
ORPHA:25 |
| Capillary Malformation-Arteriovenous Malformation |
|
Chylothorax, Hydrocephalus, Epistaxis, Abnormal heart morphology |
ORPHA:137667 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Respiratory distress, Gastroesophageal reflux, Splenic cyst, Ventric... |
OMIM:618188 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, High, narrow palate, Hydrocephalus, Hydrocele testis, High palate |
OMIM:613776 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splenomegaly, Hydrocephalus, Growth del... |
ORPHA:667 |
| Gabriele-De Vries Syndrome |
|
Cryptorchidism, Lateral ventricle dilatation, High palate, Intrauterine growth retardation, Paten... |
OMIM:617557 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Narrow palate, Mitral valve prolapse, Gastroesophageal reflux, Hig... |
OMIM:182212 |
| Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, ... |
OMIM:109400 |
| Cousin Syndrome |
|
Rhizomelia, Hydrocephalus, Disproportionate short stature, Cleft palate, Hydranencephaly, Microgl... |
OMIM:260660 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, High... |
OMIM:619512 |
| Raine Syndrome |
|
Short stature, Protruding tongue, Hydrocephalus, Cleft palate, High palate, Neonatal death |
OMIM:259775 |
| Craniopharyngioma |
|
Proportionate short stature, Postnatal growth retardation, Hydrocephalus, Growth delay, Delayed p... |
ORPHA:54595 |
| Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Cleft palate, Lateral ventricle dilatation, Agenesis... |
ORPHA:1692 |
| Lhermitte-Duclos Disease |
|
Macroglossia, Hydrocephalus |
ORPHA:65285 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Tracheomalacia, Spina bifida, Postnatal growth ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Tracheomalacia, Spina bifida, Postnatal growth ... |
ORPHA:363958 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
| Bainbridge-Ropers Syndrome |
|
Intestinal malrotation, Cryptorchidism, Growth delay, Lateral ventricle dilatation, High palate, ... |
OMIM:615485 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Short stature, Double inlet left ventricle, Lateral ventricle dilatatio... |
OMIM:619869 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Ventricular septal defect, Short stature, Cryptorchidism, Hydrocephalus, Malrot... |
OMIM:194190 |
| Sturge-Weber Syndrome |
|
Hydrocephalus, Dysphagia, Pulmonary embolism |
ORPHA:3205 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary va... |
ORPHA:580 |
| Hajdu-Cheney Syndrome |
|
Hepatomegaly, Ventricular septal defect, Mitral stenosis, Short stature, Intestinal malrotation, ... |
ORPHA:955 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Dandy-Walker ma... |
OMIM:615287 |
| Kabuki Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal cardiac septum morphology, H... |
ORPHA:2322 |
| Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Submucou... |
OMIM:114290 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Short stature, Cleft palate, Abnormal heart morphology, Lateral ventricle d... |
ORPHA:177907 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst, Cleft soft palate |
ORPHA:293725 |
| Fontaine Progeroid Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Short stature, Protruding tongue, Cryptorchidism, Hy... |
OMIM:612289 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Short stature, Cardiomegaly, Postnatal growth retardation, Cryptorchid... |
ORPHA:3472 |
| Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Short stature, Aganglionic megacolon, Aqueductal stenosis, Hydrocephal... |
OMIM:154400 |
| Medulloblastoma |
|
Hydrocephalus, Adenomatous colonic polyposis |
ORPHA:616 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Short stature |
ORPHA:220295 |
| Monosomy 9Q22.3 |
|
Hydrocephalus, Cardiac fibroma, Ventriculomegaly |
ORPHA:77301 |
| Mend Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, High palate, Aortic valve stenosis, Dandy-Walker ma... |
OMIM:300960 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Neonatal respiratory distress, Lateral ventricle dilatation, Disproportionate short-limb short st... |
OMIM:619479 |
| Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Short stature, Intestinal malrotation, Cryptorchidism, Hydrocephalus, ... |
OMIM:102500 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Short stature, Cryptorchidism, Colpocephaly, High palate, Gastroesophageal reflux |
OMIM:620083 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Short st... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Short st... |
ORPHA:353277 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Cleft soft palate, Intestinal malrotation, Hydrocephalus, Intrauterine growth reta... |
OMIM:619321 |
| Holoprosencephaly 9 |
|
Short stature, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Cleft pala... |
OMIM:610829 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
| Peters Plus Syndrome |
|
Intestinal fistula, Anal atresia, Short stature, Rhizomelia, Postnatal growth retardation, Crypto... |
ORPHA:709 |
| Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
| Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Anomalous splenoportal venous system, Hydrocephalus, Cleft p... |
OMIM:218600 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:457284 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Severe short stature, Cryptorchidism, Hydrocephalus, High, narrow palate, Submucous cleft hard pa... |
ORPHA:2658 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Jejunal atresia, Ileal atresia, Dysplastic corpus callosum, Cryptorchidism, Colpocephaly, Holopro... |
OMIM:618820 |
| Pseudoaminopterin Syndrome |
|
Short stature, Asplenia, Cryptorchidism, Hydrocephalus, High palate, Patent foramen ovale |
ORPHA:221120 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Short stature, Hydrocephalus, Abnormal heart morphology, Mi... |
ORPHA:363700 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Macroglossia, High palate, Tricuspid va... |
ORPHA:261337 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, H... |
OMIM:607872 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
| Constricting Bands, Congenital |
|
Encephalocele, Ectopia cordis, Cleft palate |
OMIM:217100 |
| Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Neonatal respiratory distress, Intestinal obstruction, Rhizomeli... |
ORPHA:666 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Hydrocephalus, Bicuspid pulmon... |
OMIM:609192 |
| Hypoplasminogenemia |
|
Hydrocephalus, Duodenal ulcer, Dandy-Walker malformation |
ORPHA:722 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Microvesicular hepatic steatosis, Lateral ventricle dilatation, Respiratory failure... |
OMIM:300868 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatoblastoma, Atrial septal defect, Agenesis of corpus callosum, Exaggerated median tongue furr... |
OMIM:312870 |
| Keppen-Lubinsky Syndrome |
|
Recurrent pneumonia, Upper airway obstruction, Respiratory insufficiency, Lateral ventricle dilat... |
OMIM:614098 |
| Tay-Sachs Disease |
|
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
| Peters-Plus Syndrome |
|
Rhizomelia, Ventricular septal defect, Bilobate gallbladder, Postnatal growth retardation, Crypto... |
OMIM:261540 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Cryptorchidism, Hydrocephalus, High, narrow palate, Oligozoospermia, Anteriorly placed anus, Stil... |
ORPHA:95699 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hepatic steatosis, Ventricular septal defect, Bicuspid aortic valve, High, narrow palate, Hydroce... |
OMIM:619475 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Hydrocephalus, T... |
OMIM:107480 |
| Helsmoortel-Van Der Aa Syndrome |
|
Short stature, Cryptorchidism, High, narrow palate, Mitral valve prolapse, Abnormal heart morphol... |
OMIM:615873 |
| Oeis Complex |
|
Intestinal malrotation, Cryptorchidism, Hydrocephalus, Myelomeningocele, Anteriorly placed anus, ... |
OMIM:258040 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lateral ventricle dilatation, Dysphagia |
ORPHA:2822 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
| Fetal Akinesia Deformation Sequence 1 |
|
High, narrow palate, Hydrocephalus, Cryptorchidism, Cleft palate, Stillbirth, High palate, Intrau... |
OMIM:208150 |
| Otopalatodigital Syndrome, Type Ii |
|
Short stature, Spina bifida, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Respira... |
OMIM:304120 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Cockayne Syndrome A |
|
Hepatomegaly, Short stature, Cryptorchidism, Splenomegaly, Severe postnatal growth retardation, N... |
OMIM:216400 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida |
OMIM:162200 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Colpocephaly, Patent foramen ovale |
ORPHA:477993 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Progressive ventriculomegaly, Proportionate short stature, Submucous cleft so... |
ORPHA:500150 |
| Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Cryptorchidism, Hydrocephalus, Myelomeningoce... |
OMIM:219000 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation, Short stature, Dysphagia |
OMIM:618367 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, High palate, Ventriculomegaly |
OMIM:617011 |
| Microphthalmia With Limb Anomalies |
|
Short stature, Cryptorchidism, Hydrocephalus, Cleft palate, High palate |
ORPHA:1106 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Anal atresia, Hydrocephalus, Cleft palate |
OMIM:273395 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Short stature, Epistaxis, Patent foramen ovale, Asthma, Cryptorchidi... |
OMIM:619841 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation, High palate, Gastroesophageal reflux, Atrial septal defect, Intraut... |
OMIM:300896 |
| Genitopatellar Syndrome |
|
Anal stenosis, Ventricular septal defect, Cryptorchidism, Malrotation of small bowel, Anteriorly ... |
OMIM:606170 |
| Cockayne Syndrome B |
|
Hepatomegaly, Severe short stature, Postnatal growth retardation, Cryptorchidism, Splenomegaly, N... |
OMIM:133540 |
| Floating-Harbor Syndrome |
|
Short stature, Celiac disease, Cryptorchidism, Tetralogy of Fallot, Growth delay, Gastroesophagea... |
ORPHA:2044 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Pneumonia, Hepatosplenomegaly, Macroglossia, Recurrent gastroenteritis |
ORPHA:309282 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus, Dysphagia |
ORPHA:637 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Respiratory failure, S... |
ORPHA:805 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Spontaneous pneumothorax, Eosinophilic infiltration of the esophagus, Hydr... |
OMIM:610168 |
| Niemann-Pick Disease Type C |
|
Axial dystonia, Dystonia, Tremor, Narcolepsy, Limb dystonia, Intention tremor |
ORPHA:646 |
| Scalp-Ear-Nipple Syndrome |
|
Cardiac myxoma, Lateral ventricle dilatation, Short stature, Bifid uvula |
OMIM:181270 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
| Focal Dermal Hypoplasia |
|
Short stature, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Hydrocephalus, Myelomeningo... |
OMIM:305600 |
| Exstrophy-Epispadias Complex |
|
Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Cryptorchidism, Hydroceph... |
ORPHA:322 |
| Meningioma |
|
Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pulmonary function testi... |
ORPHA:2495 |
| Wiedemann-Rautenstrauch Syndrome |
|
Short stature, Pneumonia, Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, Dysphagia... |
OMIM:264090 |
| Floating-Harbor Syndrome |
|
Short stature, Celiac disease, Cryptorchidism, Atrial septal defect, Mesocardia |
OMIM:136140 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Hydroc... |
OMIM:268300 |
| Schinzel-Giedion Syndrome |
|
Umbilical hernia, Neural tube defect, Abnormal heart morphology |
ORPHA:798 |
| Coffin-Siris Syndrome 12 |
|
Short stature, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard... |
OMIM:619325 |
| Neurofibromatosis Type 1 |
|
Short stature, Cryptorchidism, Hydrocephalus, Delayed puberty, Neoplasm of the gastrointestinal t... |
ORPHA:636 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hepatic steatosis, Short stature, Cryptorchidism, Congenital malformation of the left heart, Hydr... |
ORPHA:3455 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, High palate, Ventriculomegaly |
ORPHA:457359 |
| 6Q Terminal Deletion Syndrome |
|
High, narrow palate, Colpocephaly |
ORPHA:75857 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Short stature |
ORPHA:3042 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Short stature, Aganglionic megacolon,... |
ORPHA:261537 |
| Split Cord Malformation |
|
Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele |
ORPHA:573278 |
| Choreoacanthocytosis |
|
Hepatomegaly, Protruding tongue, Splenomegaly, Dilated cardiomyopathy, Lateral ventricle dilatati... |
ORPHA:2388 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Cleft hard palate, Asplenia, Agenesis of corpus callosum, Bifid uvula, Sho... |
ORPHA:261552 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy |
ORPHA:293987 |
| African Trypanosomiasis |
|
Tremor, Narcolepsy, Choreoathetosis |
ORPHA:3385 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Cleft palate, Tetralogy of Fal... |
OMIM:164210 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
