| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Restrictive cardiomyopathy, Left ventricular hypertrophy |
OMIM:115210 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... |
OMIM:611556 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Dextrocardia, Situs inversus totalis |
ORPHA:66630 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Cardiomyopathy |
OMIM:614676 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... |
OMIM:613424 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis |
OMIM:618948 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613874 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613876 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Ciliary Dyskinesia, Primary, 40 |
|
Abnormal heart morphology, Situs inversus totalis |
OMIM:618300 |
| Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy |
OMIM:601494 |
| Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis |
OMIM:611884 |
| Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:123155 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis |
OMIM:300991 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do... |
OMIM:605376 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... |
OMIM:612158 |
| Nephronophthisis 16 |
|
Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmonic stenosis, Aortic valve stenosis, En... |
OMIM:615382 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Abdominal situs inversus |
OMIM:619607 |
| Rowley-Rosenberg Syndrome |
|
Cor pulmonale, Right ventricular hypertrophy |
OMIM:268500 |
| Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Left ventric... |
OMIM:615248 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Myocardial fibrosis, Cardiomyopathy |
OMIM:613873 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis |
OMIM:608644 |
| Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Absent outer dynein arms, Absent inner dynein arms, Infertility |
OMIM:613193 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hemimegalencephaly, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus cal... |
OMIM:615937 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:203450 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dy... |
OMIM:253700 |
| Holoprosencephaly 5 |
|
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Alobar holoprosencephaly, Hydrocepha... |
OMIM:609637 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Cerebral cortical hemiatrophy, Hydrocephalus, Cerebral cortical atrophy, Subcortical cerebral atr... |
ORPHA:2703 |
| Ciliary Dyskinesia, Primary, 25 |
|
Dextrocardia, Situs inversus totalis |
OMIM:615482 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... |
ORPHA:206546 |
| Ciliary Dyskinesia, Primary, 38 |
|
Absent inner and outer dynein arms, Situs inversus totalis, Infertility, Dextrocardia |
OMIM:618063 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Abnormal morphology of female internal gen... |
ORPHA:1926 |
| Atrial Fibrillation, Familial, 10 |
|
Left atrial enlargement, Left ventricular hypertrophy |
OMIM:614022 |
| Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Situs inversus totalis, Heterotaxy, Absent inner dynein a... |
OMIM:613807 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Ventricular septal defect, Basal ganglia necrosis, Intra... |
ORPHA:79243 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular hypert... |
OMIM:604169 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis |
OMIM:612518 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Dilation of lateral ventricles, Ventricular septal defect, Hypoplasia of the corpus callosum, Cry... |
OMIM:616816 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis |
OMIM:615434 |
| Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Ventriculomegaly, Hydrocepha... |
OMIM:604213 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Dilation of lateral ventricles, Micropenis, Polymicrogyria, Bilateral cryptorchidism |
OMIM:300982 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... |
ORPHA:300573 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum |
OMIM:300864 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis |
OMIM:612444 |
| Unilateral Hemispheric Polymicrogyria |
|
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia |
ORPHA:101071 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left ventricular hypertrophy, Asymmetric septal hypertrophy |
OMIM:613838 |
| Polyrrhinia |
|
Dilation of lateral ventricles, Abnormal third ventricle morphology |
ORPHA:141091 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Absent outer dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal corpus callosum morphology, Ventriculomegaly, Hydrocephalus, Cortical dysplasia, Microce... |
OMIM:618709 |
| Ciliary Dyskinesia, Primary, 2 |
|
Dextrocardia, Infertility, Situs inversus totalis, Absent inner and outer dynein arms, Nasal poly... |
OMIM:606763 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis |
OMIM:617577 |
| Ciliary Dyskinesia, Primary, 17 |
|
Dextrocardia, Situs inversus totalis |
OMIM:614679 |
| Distal Trisomy 14Q |
|
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation |
ORPHA:1705 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... |
ORPHA:353 |
| Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... |
OMIM:208530 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 20 |
|
Dextrocardia, Situs inversus totalis |
OMIM:615067 |
| Martsolf Syndrome 2 |
|
Short stature, Hypogonadotropic hypogonadism, Dilation of lateral ventricles, Hypoplasia of the c... |
OMIM:619420 |
| Ciliary Dyskinesia, Primary, 26 |
|
Situs inversus totalis, Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis |
OMIM:614017 |
| Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
| Band Heterotopia |
|
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Agenesis of corpus... |
OMIM:600348 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Pulmonic s... |
OMIM:615415 |
| Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis |
OMIM:615451 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus |
OMIM:617967 |
| Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm, Situs inversus totalis, Nasal polyposis, Abnormal axonemal organizat... |
OMIM:613808 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Hydrocephalus, Long penis |
ORPHA:1672 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... |
OMIM:108900 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
| Ciliary Dyskinesia, Primary, 19 |
|
Infertility, Reduced sperm motility, Situs inversus totalis, Absent inner and outer dynein arms, ... |
OMIM:614935 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Ciliary Dyskinesia, Primary, 30 |
|
Dextrocardia, Situs inversus totalis, Absent outer dynein arms, Nasal polyposis |
OMIM:616037 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Hypoplasia of right ventricle, Abnormal aortic valve morphology, Mitral atresia, Si... |
OMIM:616749 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
| Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Reduced sperm motility, Situs inversus totalis, Absent inner and outer dynein arms, ... |
OMIM:615444 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Cerebral calcification |
ORPHA:99966 |
| Ciliary Dyskinesia, Primary, 28 |
|
Situs inversus totalis |
OMIM:615505 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Ventricular septal defect, Intrauterine growth retardation, Anencephaly, Short statu... |
ORPHA:1908 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Isomerism, Urethral atresia, Transposition of the great arteries, ... |
OMIM:314390 |
| Focal Cortical Dysplasia, Type Ii |
|
Hemimegalencephaly, Astrocytosis, Focal cortical dysplasia type II, Focal white matter lesions, C... |
OMIM:607341 |
| Mulibrey Nanism |
|
Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Ataxia, Atrial ... |
OMIM:249270 |
| Primary Ciliary Dyskinesia |
|
Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, Double out... |
ORPHA:244 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Astrocytosis, Megalencephaly, Ventriculomegaly |
OMIM:611087 |
| Hydrocephalus, Congenital Communicating, 1 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:1538 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Dilation of lateral ventricles, Spina bifida occulta, Agenesis of corp... |
OMIM:618736 |
| Congenital Hydrocephalus |
|
Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Abnormal heart morphology, Ventr... |
ORPHA:2185 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Myelomeningocele, Short stature, Situs inversus totalis, Spina bifida occulta |
OMIM:613686 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Restrictive cardiomyo... |
OMIM:608751 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Generalized amyotrophy, Cardiomyopathy, Left ventricular hypertrophy,... |
ORPHA:86812 |
| Moynahan Syndrome |
|
Hypogonadism, Cachexia, Short stature |
ORPHA:2574 |
| Alg2-Cdg |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi... |
ORPHA:79326 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Situs inversus totalis |
OMIM:613095 |
| Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
| Pulmonary Hypertension, Primary, Autosomal Recessive |
|
Right ventricular hypertrophy |
OMIM:265400 |
| Mental Retardation, Autosomal Dominant 48 |
|
Hypospadias, Dilated fourth ventricle, Polymicrogyria, Dilation of lateral ventricles, Hypoplasia... |
OMIM:617751 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Microcephaly, Cerebral atrophy |
OMIM:300884 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dilation of lateral ventricles, Cerebral cortical hemiatrophy |
ORPHA:306669 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus |
OMIM:614779 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Left ventricul... |
OMIM:619040 |
| Masa Syndrome |
|
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:303350 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Reduced a... |
OMIM:619517 |
| Fetal Trimethadione Syndrome |
|
Hypospadias, Ventricular septal defect, Intrauterine growth retardation, Transposition of the gre... |
ORPHA:1913 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis |
OMIM:612776 |
| Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Abnormal morphology of the chordae t... |
ORPHA:75566 |
| Classic Multiminicore Myopathy |
|
Increased muscle lipid content, Mitral valve prolapse, Weakness of facial musculature, Right vent... |
ORPHA:324604 |
| Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Failure to thrive, Attention deficit hyperactivity disorder, Tetralogy of Fallot, Hy... |
ORPHA:250994 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Dilation of lateral ventricles, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy |
ORPHA:77299 |
| Slc35A2-Cdg |
|
Dandy-Walker malformation, Intrauterine growth retardation, Short stature, Abnormal heart morphol... |
ORPHA:356961 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Ventricular hypertrophy, Hepatomegaly |
OMIM:619048 |
| Spermatogenic Failure 35 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 18 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 20 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 19 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Ventricular septal defect, Gonadal dysgenesis, male, Double outlet right ventricle, ... |
OMIM:231060 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Dilation of lateral ventricles, Hydrocephalus, Vascular dilatation, Ventriculomegaly |
OMIM:602200 |
| Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cyst... |
OMIM:600721 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Situs inversus totalis, Absent outer dynein arms, Male infertility, ... |
OMIM:244400 |
| Bilateral Generalized Polymicrogyria |
|
Diffuse white matter abnormalities, Growth delay, Short stature, Hypoplastic hippocampus, Dilatio... |
ORPHA:208447 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebral white matter hypoplasia, Intrauterine growth retardation, Simplified gyral pattern, Prim... |
ORPHA:284417 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Cerebral atrophy, Short stature, Leukoencephalopathy, Abnormal cerebral white matter morphology, ... |
ORPHA:178469 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Intrauterine gro... |
OMIM:612863 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Colpocephaly, Dextrotransposition of the great ... |
OMIM:618619 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Neonatal death, Coarctation of aorta, Patent ductus arteriosus |
OMIM:601612 |
| Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Gliosis, Astrocytosis, Cerebral atrophy, Cerebral cortex with spongiform changes, Hyperintensity ... |
ORPHA:204 |
| Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Growth delay, Short stature, Attention deficit hyperactivity disorder, Hyperactivit... |
OMIM:614294 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Meckel Syndrome, Type 7 |
|
Right ventricular hypertrophy, Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, ... |
OMIM:267010 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dandy-Walker malformation, Ventricular septal defect, Severe postnatal growth retardation, Dilate... |
ORPHA:3078 |
| Cach Syndrome |
|
Intrauterine growth retardation, Growth delay, Dysgyria, Premature ovarian insufficiency, Cerebra... |
ORPHA:135 |
| Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse, Short stature, Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism,... |
ORPHA:2183 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy |
OMIM:614654 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Cachexia, Gait ataxia |
OMIM:612075 |
| Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
| Glutamine Deficiency, Congenital |
|
Neonatal death, Subependymal cysts, Decreased CSF glutamine concentration, Dilation of lateral ve... |
OMIM:610015 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
| Developmental And Epileptic Encephalopathy 49 |
|
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Cerebral calcification, Microcephaly |
OMIM:617281 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Congenital muscular dystrophy, Left vent... |
OMIM:613156 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Short stature, Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus, Obesity, ... |
ORPHA:141333 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... |
ORPHA:860 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect |
OMIM:613751 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Short stature, Midshaft hypospadias, Patent ductus arteriosus, Anterior hypopituita... |
ORPHA:2863 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Intrauterine growth retardation, Rectovag... |
ORPHA:1780 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Progressive Non-Fluent Aphasia |
|
Frontotemporal cerebral atrophy, Temporal cortical atrophy, Astrocytosis, Abnormal cerebral white... |
ORPHA:100070 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
| Dextrocardia |
|
Abnormal pulmonary situs morphology, Meckel diverticulum, Abnormal lung lobation, Situs inversus ... |
ORPHA:1666 |
| Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... |
OMIM:617205 |
| Christianson Syndrome |
|
Dystonia, Cachexia, Ventriculomegaly, Truncal ataxia, Gait ataxia |
ORPHA:85278 |
| Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification |
ORPHA:1931 |
| Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Situs inversus totalis, Hypogonadism, Micropenis, Obesity |
OMIM:615994 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Cachexia, Slender build, Ataxia |
OMIM:613662 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Short stature |
ORPHA:1144 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Gait disturbance, Hydrocephalus, Lethargy |
ORPHA:26 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Pulmonic stenosis |
OMIM:609008 |
| Ciliary Dyskinesia, Primary, 11 |
|
Short stature, Ciliary dyskinesia, Abnormal ciliary motility, Abnormal central microtubular pair ... |
OMIM:612649 |
| X-Linked Intellectual Disability, Wilson Type |
|
Dilation of lateral ventricles, Growth delay, Microcephaly, Hydrocele testis |
ORPHA:85290 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Deep white matter hypodensities, Intrauterine growth retardation, Abnormal corpus callosum morpho... |
ORPHA:565624 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy |
ORPHA:444013 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Holoprosencephaly, Lissencephaly, Pulmonic stenosis, Transposition of the... |
OMIM:253800 |
| Microcephaly-Capillary Malformation Syndrome |
|
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:614261 |
| Ciliary Dyskinesia, Primary, 6 |
|
Abnormal respiratory motile cilium morphology, Absent/shortened outer dynein arms, Abnormal cilia... |
OMIM:610852 |
| Thoracoabdominal Syndrome |
|
Hypospadias, Ectopia cordis, Anencephaly, Patent ductus arteriosus, Transposition of the great ar... |
OMIM:313850 |
| Renpenning Syndrome |
|
Hypospadias, Cachexia, Growth delay, Heterotaxy, Severe short stature, Decreased testicular size |
ORPHA:3242 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy |
ORPHA:363654 |
| Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:613154 |
| Catel-Manzke Syndrome |
|
Dextrocardia, Ventricular septal defect, Intrauterine growth retardation, Postnatal growth retard... |
OMIM:616145 |
| Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... |
OMIM:264480 |
| Craniofacial Dyssynostosis |
|
Short stature, Patent ductus arteriosus, Hydrocephalus, Hypoplasia of the corpus callosum, Umbili... |
ORPHA:1516 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Patent ductus arteriosus |
ORPHA:2978 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Cachexia, Short stature, Ventriculomegaly |
ORPHA:1933 |
| Xfe Progeroid Syndrome |
|
Cachexia, Severe short stature, Ventriculomegaly |
OMIM:610965 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Dysgenesis of the hippocampus, Normal pressure hydroceph... |
ORPHA:300570 |
| Agnathia-Otocephaly Complex |
|
Situs inversus totalis |
OMIM:202650 |
| 8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Hypospadias, Abnormal aortic morphology, Intrauterine growth retarda... |
ORPHA:251071 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Ascending aortic dissection, Descending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Ventricular septal defect, Abnormal penis morphology, Intrauterine gro... |
ORPHA:2461 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture |
OMIM:616733 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Right ventricular hypertrophy, Ventricular septal defect, Arthrogryposis multiplex congenita |
OMIM:613404 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Growth delay, Abnormal latera... |
ORPHA:488635 |
| Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
| Meacham Syndrome |
|
Hydrometrocolpos, Ventricular septal defect, Conotruncal defect, Abnormal vagina morphology, Hypo... |
ORPHA:3097 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... |
ORPHA:1330 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypoplasia of... |
OMIM:618606 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... |
ORPHA:169186 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Pulmonic stenosis, Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Patent fora... |
OMIM:618914 |
| Mosaic Trisomy 9 |
|
Dandy-Walker malformation, Dextrocardia, Ventricular septal defect, Intrauterine growth retardati... |
ORPHA:99776 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Neonatal death, Patent ductus arteriosus, Septate vagina, Blind vagina, Co... |
OMIM:608978 |
| Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
| Spinocerebellar Ataxia 48 |
|
Dystonia, Cachexia, Dysmetria, Ataxia, Gait ataxia |
OMIM:618093 |
| Bronchopulmonary Dysplasia |
|
Right ventricular hypertrophy |
ORPHA:70589 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Growth delay, Urethral stenosis, Displacement... |
ORPHA:1727 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... |
OMIM:615418 |
| Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... |
OMIM:619585 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Ventricular septal hypertrophy, Left ... |
OMIM:608758 |
| Adams-Oliver Syndrome 5 |
|
Right ventricular hypertrophy, Splenomegaly, Pulmonic stenosis, Right atrial enlargement, Patent ... |
OMIM:616028 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:215520 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Astrocytosis, Basal ganglia gliosis, Basal ganglia cysts, Small basal ganglia, Atrophy/Degenerati... |
ORPHA:225154 |
| Aicardi-Goutieres Syndrome 4 |
|
Intrauterine growth retardation, Cerebral calcification, CSF lymphocytic pleiocytosis, Ventriculo... |
OMIM:610333 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
| Pettigrew Syndrome |
|
Dandy-Walker malformation, Cerebral calcification, Ventriculomegaly, Hydrocephalus, Abnormality o... |
OMIM:304340 |
| Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Short ... |
OMIM:612650 |
| Fried Syndrome |
|
Hydrocephalus, Cerebral calcification |
ORPHA:85335 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus, Hydrocephalus |
OMIM:258320 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Ventricular septal defect, Short stature, Patent ductus arteriosus, Ventriculomegaly... |
OMIM:218350 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... |
OMIM:606217 |
| Carpenter Syndrome 1 |
|
Ventricular septal defect, Short stature, External genital hypoplasia, Patent ductus arteriosus, ... |
OMIM:201000 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short stature, Perimembranous ventricular septal defect, Pulmonic stenosis, Transposition of the ... |
OMIM:617877 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Megalencephaly, Polymicrogyria, Hydrocephalus, Abnormal cardiac septum... |
ORPHA:83473 |
| Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Right ventricular hypertrophy |
OMIM:613623 |
| Mcdonough Syndrome |
|
Cryptorchidism, Cachexia, Short stature |
ORPHA:2471 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
| Achondroplasia |
|
Rhizomelia, Hydrocephalus, Megalencephaly, Neonatal short-limb short stature |
OMIM:100800 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal cerebral atrophy, Astrocytosis, Abnormal cerebral white matter morphology |
ORPHA:275864 |
| Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Cardiomegaly, Ventriculomegaly, Hydrocephalus, Cerebral calcific... |
ORPHA:858 |
| Ciliary Dyskinesia With Excessively Long Cilia |
|
Abnormal respiratory motile cilium morphology, Nasal polyposis, Ciliary dyskinesia, Immotile cilia |
OMIM:242680 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Arthrogryposis mu... |
OMIM:208085 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria |
OMIM:614870 |
| Temple Syndrome |
|
Intrauterine growth retardation, Small for gestational age, Short stature, Truncal obesity, Hydro... |
OMIM:616222 |
| Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Astrocytosis, Cerebral atrophy |
OMIM:600333 |
| Lissencephaly 5 |
|
Subcortical band heterotopia, Leukoencephalopathy, Hypoplasia of the corpus callosum, Porencephal... |
OMIM:615191 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Moyamoya phenomenon, Ascending tubular aorta aneurysm, Premature coronary artery atherosclerosis,... |
OMIM:611788 |
| Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Dilation of lateral ventricles, Agenesis of corpus callosum |
OMIM:300952 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Coronary artery aneurysm, Abdominal aortic aneurysm, Ascending aortic... |
OMIM:615436 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Simplified gyral pattern, Periventricular white matter hyperintensities, Hydrocephalus, Microcephaly |
OMIM:619470 |
| Malan Overgrowth Syndrome |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Ventriculomegaly |
ORPHA:420179 |
| Ellis Van Creveld Syndrome |
|
Hypospadias, Dextrocardia, Ventricular septal defect, Intrauterine growth retardation, Abnormal m... |
ORPHA:289 |
| Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
| Nephronophthisis 2 |
|
Situs inversus totalis, Enlarged kidney |
OMIM:602088 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1532 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
| Joubert Syndrome |
|
Ataxia, Situs inversus totalis, Gait disturbance, Hydrocephalus |
ORPHA:475 |
| Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Right ventricular hypertrophy |
ORPHA:335 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Megalencephaly, Ventriculomegaly, Cavum septum pellucidum, Hydrocephal... |
OMIM:602501 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Restrictive cardiomyopathy, Car... |
ORPHA:85451 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Dysgyria |
ORPHA:352682 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... |
OMIM:618164 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Cerebral cortical atrophy, Astrocytosis |
OMIM:600795 |
| Central Precocious Puberty |
|
Hypothalamic hamartoma, Proportionate short stature, Increased circulating gonadotropin level, Is... |
ORPHA:759 |
| Tangier Disease |
|
Hepatomegaly, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy |
OMIM:205400 |
| Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Gliosis, Lewy bodies, Dilation of lateral ventricles, Cerebral cortical ... |
OMIM:607485 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the... |
ORPHA:397951 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebral white matter hypoplasia, Intrauterine growth retardation, Dilated fourth ventricle, Leuk... |
ORPHA:572798 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Familial Dilated Cardiomyopathy |
|
Left ventricular hypertrophy, Right ventricular dilatation |
ORPHA:217607 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dandy-Walker malformation, Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle... |
OMIM:220220 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Aortic aneurysm |
ORPHA:261102 |
| Riboflavin Transporter Deficiency |
|
Hypogonadism, Ataxia, Cachexia |
ORPHA:97229 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification |
ORPHA:73256 |
| Ritscher-Schinzel Syndrome 1 |
|
Dandy-Walker malformation, Hypospadias, Ventricular septal defect, Intrauterine growth retardatio... |
OMIM:220210 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Ventriculomegaly, Pro... |
ORPHA:488627 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle |
OMIM:618254 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:225050 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Dystonia, Abnormal aortic valve morphology, Abnormal heart morphology, Failure to t... |
ORPHA:261197 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... |
OMIM:132900 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
| Distal Monosomy 10Q |
|
Short stature, Patent ductus arteriosus, Cavum septum pellucidum, Atrial septal defect, Postnatal... |
ORPHA:96148 |
| Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:102200 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dandy-Walker malformation, Dilated third ventricle, Hypospadias, Short stature, Colp... |
ORPHA:397715 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Type II lissencephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Pallister-Hall-Like Syndrome |
|
Hypothalamic hamartoma, Abnormal heart morphology, Micropenis, Hydrocephalus, Anterior hypopituit... |
OMIM:241800 |
| Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Dandy-Walker malformation, Intrauterine growth retardation, Micropenis... |
OMIM:248700 |
| Johanson-Blizzard Syndrome |
|
Hypospadias, Dextrocardia, Abnormal vagina morphology, Intrauterine growth retardation, Short sta... |
ORPHA:2315 |
| Paganini-Miozzo Syndrome |
|
Dilation of lateral ventricles |
OMIM:301025 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Inherited Creutzfeldt-Jakob Disease |
|
Focal T2 hyperintense basal ganglia lesion, Astrocytosis, Increased CSF protein, Diffuse spongifo... |
ORPHA:282166 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Right ventricular hypertrophy, Cardiomegaly, Proximal mu... |
ORPHA:268 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Umbilical hernia, Abnormal heart morphology, Ventriculomegaly, Hydrocephalus, Crypto... |
OMIM:175700 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Abnormal corpus call... |
ORPHA:457279 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism, Hydrocephalus |
OMIM:300886 |
| Juvenile Huntington Disease |
|
Dystonia, Weight loss, Bradykinesia, Ventriculomegaly, Hyperactivity, Progressive cerebellar atax... |
ORPHA:248111 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Intrauterine growth retardation, Ventriculomegaly, Aplasia/Hypoplasia of ... |
ORPHA:272 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Hydranencephaly, Intrauterine growth retardation, Ventriculomegaly, Hy... |
OMIM:225790 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Simplified g... |
OMIM:619302 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Left ventricular hyper... |
OMIM:615355 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Inability to walk, Failure to thrive in infancy, Intrauterine growth retardation, Cachexia |
OMIM:616801 |
| Silver-Russell Syndrome |
|
Hypospadias, Abnormal vagina morphology, Failure to thrive in infancy, Intrauterine growth retard... |
ORPHA:813 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Congenital Gerbode Defect |
|
Constrictive pericarditis, Ventricular septal defect, Bacterial endocarditis, Right ventricular h... |
ORPHA:99095 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Facial Dysmorphism With Multiple Malformations |
|
Ventricular septal defect, Intrauterine growth retardation, Rectovaginal fistula, Transposition o... |
OMIM:227255 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Pericardial effusion, Intrauterine growth retardation, Cerebral calcification, Diff... |
OMIM:619487 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis |
ORPHA:990 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
| Cog5-Cdg |
|
Intrauterine growth retardation, Short stature, Cerebral white matter atrophy, Micropenis, Diffus... |
ORPHA:263487 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly |
OMIM:304100 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... |
ORPHA:3092 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Pachygyria, Agyria, Dilation ... |
ORPHA:2148 |
| Familial Aortic Dissection |
|
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... |
ORPHA:229 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile cilia, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Ciliary dyskin... |
OMIM:242670 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... |
ORPHA:3208 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Bicuspid pulmonary va... |
ORPHA:1686 |
| Cardiofaciocutaneous Syndrome 4 |
|
Short stature, Abnormal aortic valve morphology, Abnormal ventricular septum morphology, Pulmonic... |
OMIM:615280 |
| Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Ververi-Brady Syndrome |
|
Transposition of the great arteries, Short stature, Intrauterine growth retardation, Microcephaly |
OMIM:617982 |
| X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
| 19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Ventricular septal defect, Cachexia, Intrauterine growth retardation, Bifid scrotum,... |
ORPHA:217346 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia |
OMIM:221950 |
| Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Dandy-Walker malformation, Ventricular septal defect, Hydranencephaly, Chor... |
OMIM:256520 |
| Temple Syndrome |
|
Small for gestational age, Short stature, Postnatal growth retardation, Hydrocephalus, Obesity, C... |
ORPHA:254516 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum... |
ORPHA:1528 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hypoplastic female external genitalia, Ventriculomegaly, Hydrocephalus, Cryptorchidism, Hypoplasi... |
OMIM:618577 |
| Pagod Syndrome |
|
Meningocele, Abnormal morphology of female internal genitalia, Short stature, Situs inversus tota... |
ORPHA:991 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Abnormal preputium morphology, Primary ... |
ORPHA:293725 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Cryptorchidism, Patent foramen ovale |
OMIM:616789 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Increased C... |
ORPHA:298 |
| Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Growth delay, Double outlet right ventricle, Patent ductus arteriosus,... |
OMIM:179613 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Patent ductus arteriosus, Abnormality of the septum pellucidum, Micropenis, Hydrocep... |
ORPHA:171839 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:250972 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Camptodactyly |
OMIM:611209 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Right ventricular hypertrophy |
ORPHA:217563 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Hypospadias, Ventricular septal defect, Left superior vena cava draining... |
ORPHA:464738 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Dandy-Walker malformation, Ventricular septal defect, Intrauterine growth retardatio... |
OMIM:611134 |
| Greig Cephalopolysyndactyly Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Umbilical hernia |
ORPHA:380 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Anencephaly, Decreased testicular size, Ventriculomegaly, Micropenis, ... |
OMIM:615287 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Dilation of lateral ventricles, Partial agenesis of the corpus callosum,... |
OMIM:617296 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Dandy-Walker malformation, Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine g... |
OMIM:612938 |
| Aicardi Syndrome |
|
Dilated third ventricle, Dandy-Walker malformation, Partial agenesis of the corpus callosum, Chor... |
OMIM:304050 |
| Congenital Aortic Valve Stenosis |
|
Endocarditis, Dysplastic aortic valve, Endocardial fibroelastosis, Aortic valve calcification, Le... |
ORPHA:3093 |
| Ring Chromosome 10 Syndrome |
|
Cachexia, Intrauterine growth retardation |
ORPHA:1438 |
| Joubert Syndrome With Ocular Defect |
|
Dextrocardia, Agenesis of corpus callosum, Hydrocephalus, Polymicrogyria |
ORPHA:220493 |
| Mosaic Trisomy 1 |
|
Ventricular septal defect, Agenesis of corpus callosum, Coarctation of aorta, Micropenis, Polymic... |
ORPHA:1692 |
| Pelizaeus-Merzbacher Disease |
|
Dystonia, Gait disturbance, Failure to thrive in infancy, Cachexia, Short stature, Ataxia |
ORPHA:702 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion |
OMIM:239850 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Heterotaxy, Pulmoni... |
ORPHA:3426 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Mend Syndrome |
|
Dandy-Walker malformation, Short stature, Hyperactivity, Hydrocephalus, Cryptorchidism, Aortic va... |
OMIM:300960 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Ventricular septal defect, Peripheral pulmonary artery stenosis, Short s... |
OMIM:619575 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Dilation of lateral ventricles, Microcephaly |
OMIM:619278 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Short stature |
ORPHA:1389 |
| Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary arte... |
ORPHA:3384 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Abdominal situs invers... |
OMIM:270100 |
| Whipple Disease |
|
Myocarditis, Cachexia, Pericarditis, Erectile dysfunction, Ataxia, Hydrocephalus |
ORPHA:3452 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Cachexia, Cardiomegaly, Lethargy |
ORPHA:42 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Growth delay, Short stature, Abnormality of the male genitalia, Double outlet right ventricle, Pa... |
OMIM:614886 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... |
ORPHA:544488 |
| Triploidy |
|
Meningocele, Hypospadias, Intrauterine growth retardation, Holoprosencephaly, Ambiguous genitalia... |
ORPHA:3376 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Hepatomegaly, Left ventricular hypertrophy, Left ventricular noncompactio... |
OMIM:619167 |
| Pulmonary Hypertension, Primary, 1 |
|
Right ventricular hypertrophy |
OMIM:178600 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Ventricular septal defect, Megalencephaly, Thick corpus callosum, Pachygyria, Atri... |
OMIM:603387 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Intrauterine growth retardation, Hydrocephalus, Prominent superficial veins, Agenesis of corpus c... |
OMIM:612940 |
| Scimitar Syndrome |
|
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Anomalous pulmona... |
ORPHA:185 |
| X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Cachexia, Short stature, Hyperactivity, Ataxia |
ORPHA:52503 |
| Synaptic Congenital Myasthenic Syndromes |
|
Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle fiber atrophy, Right ventr... |
ORPHA:98915 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis, Hydrocephalus, Cryptorchidism |
ORPHA:2701 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Thanatophoric Dysplasia Type 2 |
|
Short stature, Holoprosencephaly, Patent ductus arteriosus, Ventriculomegaly, Atrial septal defec... |
ORPHA:93274 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... |
ORPHA:2182 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal substantia nigra morph... |
ORPHA:2822 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Single ventricle, Double outlet left ventricle, Abnormal left ventricular outflow tract morpholog... |
ORPHA:216694 |
| Kohlschutter-Tonz Syndrome-Like |
|
Ventricular septal defect, Intrauterine growth retardation, Ventriculomegaly, Dilation of lateral... |
OMIM:619229 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Mitral atresia, Double outlet ... |
OMIM:306955 |
| Thanatophoric Dysplasia |
|
Intrauterine growth retardation, Disproportionate short-limb short stature, Patent ductus arterio... |
ORPHA:2655 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ventricular septal defect, Histiocytoid cardiomyopathy, Short stature, Colpocephaly,... |
OMIM:309801 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... |
ORPHA:1329 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Patent ductus arteriosus |
ORPHA:251046 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251915 |
| Mental Retardation, Buenos Aires Type |
|
Hypospadias, Partial agenesis of the corpus callosum, Atrial septal defect, Hydrocephalus, Microc... |
OMIM:249630 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Dandy-Walker malformation, Dextrocardia, Abnormal heart morphology, Micropenis, Tetralogy of Fall... |
ORPHA:96092 |
| 3C Syndrome |
|
Dandy-Walker malformation, Hypospadias, Ventricular septal defect, Hypoplasia of penis, Short sta... |
ORPHA:7 |
| Nasu-Hakola Disease |
|
Cerebral calcification, Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:2770 |
| Williams-Beuren Region Duplication Syndrome |
|
Short stature, Patent ductus arteriosus, Ventriculomegaly, Hydrocephalus, Cryptorchidism, Decreas... |
OMIM:609757 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele |
OMIM:183802 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Atrioventricular canal defect, Coarctation of aorta, Interhypothalamic Adhesion, Mi... |
OMIM:618929 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Short stature, Hypogonadism, Hyperactivity, Broad-based gait, Obesity, Hypoplasia of pe... |
ORPHA:85293 |
| Glutaric Acidemia I |
|
Dilation of lateral ventricles |
OMIM:231670 |
| Short Rib-Polydactyly Syndrome |
|
Hypospadias, Intrauterine growth retardation, Situs inversus totalis, Abnormal heart morphology, ... |
ORPHA:1505 |
| Isotretinoin-Like Syndrome |
|
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... |
ORPHA:2306 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy |
ORPHA:251274 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Dystonia, Cachexia, Arm dystonia, Axial dystonia, Oromandibular dystonia, Retrocollis, Ataxia, In... |
ORPHA:300605 |
| Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
| Primary Pulmonary Hypoplasia |
|
Dextrocardia, Secundum atrial septal defect, Intrauterine growth retardation, Failure to thrive |
ORPHA:2257 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Abnormal cerebral cortex morphology, Hydrocephalus, Ventriculomegaly |
ORPHA:163961 |
| Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Abnormal aortic morphology, Aorto-ventricular tunnel, Abnormal coronary art... |
ORPHA:3400 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypospadias, Ventricular septal defect, Growth delay, Holoprosencephaly, Patent ductus arteriosus... |
ORPHA:77298 |
| Bresek Syndrome |
|
Intrauterine growth retardation, Growth delay, Neonatal death, Hydrocephalus, Cryptorchidism, Dec... |
ORPHA:85284 |
| Aredyld Syndrome |
|
Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:1133 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:401815 |
| Weaver Syndrome |
|
Absent septum pellucidum, Dilation of lateral ventricles, Cryptorchidism, Umbilical hernia, Hydro... |
OMIM:277590 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hydrocephalus, Cerebral atrophy |
OMIM:269920 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Infertility, Reduced sperm motility, Ataxia, Truncal ataxia, Abnormal ... |
ORPHA:320391 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Hydrocephalus, Abnormal cerebral white matter morphology |
OMIM:600991 |
| Bainbridge-Ropers Syndrome |
|
Intrauterine growth retardation, Growth delay, Dilation of lateral ventricles, Cryptorchidism, Hy... |
OMIM:615485 |
| Rett Syndrome |
|
Dystonia, Cachexia, Short stature, Truncal ataxia, Gait ataxia, Gait apraxia |
OMIM:312750 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Severe failure to thrive, Intrauterine growth retardation, Short stature |
ORPHA:371364 |
| Tetrasomy 12P |
|
Cachexia, Short stature |
ORPHA:884 |
| Pituitary Gigantism |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:99725 |
| Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology |
ORPHA:922 |
| Huntington Disease-Like 2 |
|
Dystonia, Gait disturbance, Weight loss |
ORPHA:98934 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Abnormality of the anterior commissure, Hydrocephalus, Fusion of t... |
OMIM:617542 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Intrauterine growth retardation, Growth delay, Coarctation of aorta, P... |
OMIM:300514 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular dilatation, Left ... |
ORPHA:563 |
| Hydrocephalus With Associated Malformations |
|
Intrauterine growth retardation, Hydrocephalus |
OMIM:236640 |
| Melanosis, Neurocutaneous |
|
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus |
OMIM:249400 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Short stature, Hydrocephalus, Microcephaly |
OMIM:300558 |
| Prader-Willi Syndrome Due To Translocation |
|
Intrauterine growth retardation, Short stature, Abnormal heart morphology, Hypogonadotropic hypog... |
ORPHA:177907 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Right ventricular hypertrophy |
ORPHA:275766 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Aqueductal stenosis |
OMIM:307000 |
| Trisomy 18 |
|
Ventricular septal defect, Cachexia, Intrauterine growth retardation, Anencephaly, Abnormal morph... |
ORPHA:3380 |
| Vacterl Association With Hydrocephalus |
|
Abnormal heart morphology, Hydrocephalus, Stillbirth, Aqueductal stenosis |
OMIM:276950 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypospadias, Disproportionate short-limb short stature, Ventriculomegaly, Small pituitary gland, ... |
OMIM:619479 |
| Optic Pathway Glioma |
|
Hydrocephalus, Growth delay, Precocious puberty |
ORPHA:2086 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Intrauterine growth retar... |
OMIM:600001 |
| Flynn-Aird Syndrome |
|
Ataxia, Cachexia |
ORPHA:2047 |
| 1Q44 Microdeletion Syndrome |
|
Growth delay, Short stature, Ventriculomegaly, Hydrocephalus, Abnormal cardiac septum morphology,... |
ORPHA:238769 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Short stature, Ventriculomegaly |
OMIM:109120 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Adrenocorticotropic hormone deficiency, Macroorchidism, p... |
ORPHA:91348 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Astrocytosis |
OMIM:172500 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Dystonia, Cachexia |
OMIM:618186 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... |
ORPHA:99050 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Ciliary Dyskinesia, Primary, 43 |
|
Abdominal situs inversus, Noncommunicating hydrocephalus |
OMIM:618699 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Ventricular septal defect, Intrauterine growth retardation, Growth de... |
OMIM:614576 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Gonadal dysgenesis, male, Intrauterine growth retardation, Hydrocephalus, Abnormal c... |
ORPHA:2075 |
| Mental Retardation, Autosomal Dominant 36 |
|
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Ventriculomegaly |
OMIM:616362 |
| Meckel Syndrome |
|
Dandy-Walker malformation, True hermaphroditism, Anencephaly, Lobar holoprosencephaly, Urethral a... |
ORPHA:564 |
| 47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Varicocele, Attention deficit hyperactivi... |
ORPHA:8 |
| Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Immotile cilia |
OMIM:618801 |
| Isolated Cleft Lip |
|
Situs inversus totalis |
ORPHA:199302 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomegaly, Lissencephaly |
OMIM:615219 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Dilation of lateral ventricles, Hydrocephalus, Growth delay |
OMIM:612301 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus, Umbilical hernia |
ORPHA:2181 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Abnormal aortic morphology, Cleft palate, Truncus arteriosus, Abnormal lung ... |
ORPHA:2516 |
| Distal Trisomy 5Q |
|
Hypospadias, Dextrocardia, Ventricular septal defect, Short stature, Cryptorchidism |
ORPHA:96097 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein, Diffuse cerebral atrophy |
OMIM:245200 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary v... |
ORPHA:2184 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Right aortic arch, Aortopulmonary collateral arteries, Tetralogy of Fallot, Double aortic arch, P... |
OMIM:618780 |
| Emanuel Syndrome |
|
Dandy-Walker malformation, Ventricular septal defect, Truncus arteriosus, Intrauterine growth ret... |
ORPHA:96170 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hypogonadism, Obesity, Cryptorchidism, Hydrocephalus |
OMIM:601794 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormal cardiac septum morphology |
ORPHA:93941 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... |
ORPHA:399808 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Gliosis, Astrocytosis, Increased CSF protein, Cerebral cortical neurodegeneration |
OMIM:203700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Type II lissencephaly, Hydrocephalus, Polymicrogyria |
OMIM:615181 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Intrauterine growth retardation, Short stature, Colpocephaly, Absent s... |
OMIM:609053 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Intrauterine growth retardation, Hypoplasia o... |
ORPHA:2255 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Cachexia, Hydrocephalus, Short stature |
ORPHA:220295 |
| Ring Chromosome 7 Syndrome |
|
Hypospadias, Severe intrauterine growth retardation, Short stature, Holoprosencephaly, Situs inve... |
ORPHA:1449 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Agenesis of corpus callosum, Dilated fourth ventricle, Cardio... |
ORPHA:370959 |
| Encephalocraniocutaneous Lipomatosis |
|
Dandy-Walker malformation, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subva... |
OMIM:613001 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria, Microcephaly |
OMIM:618731 |
| Chiari Malformation Type Ii |
|
Agenesis of corpus callosum, Spina bifida, Hydrocephalus, Myelomeningocele |
OMIM:207950 |
| Halperin-Birk Syndrome |
|
