| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement |
OMIM:115210 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... |
OMIM:611556 |
| Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Left atrial enlargement |
OMIM:612201 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613876 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy |
OMIM:614676 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613874 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... |
OMIM:601493 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis |
OMIM:300991 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... |
OMIM:612158 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... |
OMIM:605376 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis |
OMIM:620032 |
| Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Infertility, Atrioventricular canal defect, Unbalanced atrioventricular canal def... |
OMIM:618300 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Abdominal situs inversus |
OMIM:619607 |
| Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Hypertrophi... |
OMIM:615248 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Pulmonic stenosis, Enlarged kidney, Situs inversus totalis, Hypertrophic c... |
OMIM:615382 |
| Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Absent inner dynein arms, Absent outer dynein arms, Infertility |
OMIM:613193 |
| Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613694 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis |
OMIM:608644 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
| Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 12 |
|
Immotile sperm, Short stature, Reduced sperm motility, Abnormal central microtubular pair morphol... |
OMIM:612650 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Calf muscle hypertrophy, Left ventricular hypertr... |
ORPHA:206546 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms, Infertility |
OMIM:618063 |
| Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Heterotaxy, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal o... |
OMIM:613807 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis |
OMIM:612518 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis |
OMIM:615434 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
| Diabetic Embryopathy |
|
Hydrocephalus, Micropenis, Tetralogy of Fallot, Ventricular septal defect, Abnormal morphology of... |
ORPHA:1926 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613251 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:614679 |
| Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Male infertility, Absent outer dynein arms |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia |
OMIM:617577 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615067 |
| Ciliary Dyskinesia, Primary, 2 |
|
Infertility, Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms, Nasal poly... |
OMIM:606763 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
| Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis |
OMIM:614017 |
| Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly |
OMIM:604213 |
| Ciliary Dyskinesia, Primary, 26 |
|
Situs inversus totalis, Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis |
OMIM:615451 |
| Diencephalic Syndrome |
|
Cachexia, Hydrocephalus, Decreased body weight, Long penis |
ORPHA:1672 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
| Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Reduced sperm motility, Situs inversus totalis, Dextrocardia, Absent inner and outer... |
OMIM:615444 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Enlarged kidney, Situs inversus totalis, ... |
OMIM:615415 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... |
OMIM:108900 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Gliosis, Increased CSF lactate, Cerebellar... |
ORPHA:79243 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum, Rhizomelia |
OMIM:166990 |
| Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia, Situs in... |
OMIM:613808 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Holoprosencephaly, Short stature, Anencephaly, Tetralogy of Fallot, Ventricular se... |
ORPHA:1908 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
| Atrial Fibrillation, Familial, 10 |
|
Left ventricular hypertrophy, Right ventricular dilatation, Left atrial enlargement |
OMIM:614022 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Mulibrey Nanism |
|
Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:600348 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Isomerism, Transposition of the g... |
OMIM:314390 |
| Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect, Hepatomegaly |
OMIM:619881 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ataxia, Atrial septal defect, Short stature, Ventricular septal defect, Situs inversus totalis, C... |
OMIM:249270 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... |
OMIM:616749 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary venous return, Situs inversus t... |
ORPHA:244 |
| Cardiomyopathy, Dilated, 1V |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613697 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia, Absent outer dynein arms, Nasal polyposis |
OMIM:616037 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Lissencephaly 4 |
|
Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature |
OMIM:614019 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Elbow ... |
OMIM:619040 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left atrial enlar... |
OMIM:608751 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Male infertility, Absent inner and outer dynein arms, Nasal polyposis |
OMIM:614935 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... |
ORPHA:86812 |
| Ciliary Dyskinesia, Primary, 28 |
|
Situs inversus totalis, Dynein arm defect of respiratory motile cilia |
OMIM:615505 |
| Moynahan Syndrome |
|
Cachexia, Short stature, Hypogonadism |
ORPHA:2574 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Short stature, Spina bifida occulta, Situs inversus totalis, Dextrocardia |
OMIM:613686 |
| Pulmonary Hypertension, Primary, 5 |
|
Right ventricular hypertrophy |
OMIM:265400 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy |
OMIM:617713 |
| Ciliary Dyskinesia, Primary, 27 |
|
Situs inversus totalis |
OMIM:615504 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Myocardial fibrosis, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613873 |
| Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle |
OMIM:220200 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Severe postnatal growth retardation, Dilated fourth ventricle, Ventricular septal defect, Lateral... |
ORPHA:3078 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly, Abnormal heart morphology |
ORPHA:2185 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Primum atrial septal defect, Situs inversus totalis |
OMIM:619608 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... |
ORPHA:324604 |
| Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Short stature |
OMIM:303350 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613838 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Hydrocephalus, Cryptorchidism, Tetralogy of Fallot |
ORPHA:250994 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Ventriculomegaly, Astrocytosis |
OMIM:611087 |
| Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Hepatomegaly |
OMIM:619048 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
| Spermatogenic Failure 51 |
|
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... |
OMIM:619177 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Gonadal dysgenesis, male, Hypospadias, Ventricular septal defect, ... |
OMIM:231060 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Situs inversus totalis, Male infertility, Absent outer dynein arms, ... |
OMIM:244400 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis |
OMIM:612776 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... |
OMIM:619095 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
| X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation, Growth delay |
ORPHA:85290 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double out... |
OMIM:306955 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
| Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, S... |
OMIM:267010 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short stature, Hypergonadotropic hypogonadism, Mitral valve prolapse, Azoospermia,... |
ORPHA:2183 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy |
OMIM:614654 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Increased CSF lactate, Cachexia, Gait ataxia, Weight loss |
OMIM:612075 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Aortic aneurysm, Cryptorchidism, Frontal encephalocele |
ORPHA:261102 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Hypospadias, Anencephaly, Ectopia cordis, Patent ductus arteriosus, Transposition ... |
OMIM:313850 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
| Dextrocardia |
|
Congenital malformation of the great arteries, Intestinal malrotation, Abnormal lung lobation, Si... |
ORPHA:1666 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... |
ORPHA:1780 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypogo... |
ORPHA:141333 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Hypospadias, Tetralogy of Fallot, Ventricular septal defect, Ambiguous geni... |
ORPHA:1913 |
| Slc35A2-Cdg |
|
Precocious puberty, Short stature, Tetralogy of Fallot, Lateral ventricle dilatation, Intrauterin... |
ORPHA:356961 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Marfanoid Habitus With Situs Inversus |
|
Pulmonic stenosis, Mitral valve prolapse, Situs inversus totalis |
OMIM:609008 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Short stature |
ORPHA:1144 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Methylmalonic Acidemia With Homocystinuria |
|
Gait disturbance, Failure to thrive, Hydrocephalus, Lethargy |
ORPHA:26 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Hydrocephalus, Atrial septal defect, Cryptorchidism, Bicornuate uterus, Holopr... |
OMIM:264480 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Ciliary Dyskinesia, Primary, 6 |
|
Abnormal respiratory motile cilium morphology, Abnormal ciliary motility, Ciliary dyskinesia, Abs... |
OMIM:610852 |
| Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy |
ORPHA:444013 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Cryptorchidism, Midshaft hypospadias, Short stature |
ORPHA:2863 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
| Bardet-Biedl Syndrome 17 |
|
Micropenis, Situs inversus totalis, Dextrocardia, Hypogonadism, Obesity |
OMIM:615994 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:300864 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Double outlet right ventricle, Left Isomerism, Double inlet right ventricle, Atrial septal defect... |
OMIM:619702 |
| Meacham Syndrome |
|
Blind vagina, Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Tet... |
OMIM:608978 |
| Renpenning Syndrome |
|
Severe short stature, Heterotaxy, Cachexia, Hypospadias, Decreased testicular size, Growth delay |
ORPHA:3242 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Ataxia, Ventriculomegaly, Short stature |
ORPHA:1933 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
| Christianson Syndrome |
|
Cachexia, Truncal ataxia, Gait ataxia, Ventriculomegaly |
ORPHA:85278 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Ciliary dyskinesia, Im... |
OMIM:612649 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Intrauterine growth retardation |
ORPHA:284417 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Patent ductus arteriosus, Pyloric stenosis |
ORPHA:2978 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Growth delay, Short stature |
ORPHA:208447 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Pulmonic stenosis, D... |
OMIM:253800 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Cach Syndrome |
|
Lateral ventricle dilatation, Growth delay, Intrauterine growth retardation, Gonadal dysgenesis |
ORPHA:135 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Dextrocardia, Umbilical hernia, Postnatal growth retardation, Cryptorc... |
OMIM:616145 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss, Ataxia |
OMIM:613662 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:215520 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventric... |
OMIM:608758 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture |
OMIM:616733 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Ciliary Dyskinesia, Primary, 5 |
|
Situs inversus totalis |
OMIM:608647 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Growth delay, Abnormal lateral ventricle morphology, Intrauterine growth retardation |
ORPHA:488635 |
| Meacham Syndrome |
|
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve... |
ORPHA:3097 |
| Bronchopulmonary Dysplasia |
|
Right ventricular hypertrophy |
ORPHA:70589 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... |
ORPHA:169186 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Right ventricular hypertrophy |
OMIM:613623 |
| Ciliary Dyskinesia With Excessively Long Cilia |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Nasal polyposis, Immotile cilia |
OMIM:242680 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
| Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Restrictive cardiomyopathy, Left vent... |
ORPHA:85451 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Joubert Syndrome |
|
Hydrocephalus, Ataxia, Situs inversus totalis, Gait disturbance, Encephalocele |
ORPHA:475 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, EMG: myopathic abnormalities, Ragged-red muscle fibers, Hypertrophi... |
OMIM:615418 |
| Mcdonough Syndrome |
|
Cachexia, Cryptorchidism, Short stature |
ORPHA:2471 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Lateral ventricle dilatation, Short stature |
ORPHA:178469 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Ventriculomegaly |
ORPHA:324416 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Temple Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Small for gestational age, Short stature, Truncal... |
OMIM:616222 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Agenesis of co... |
OMIM:225790 |
| Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coronary artery atheroscler... |
OMIM:132900 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Right ventricular hypertrophy |
ORPHA:335 |
| Distal Monosomy 10Q |
|
Atrial septal defect, Short stature, Spina bifida occulta, Lateral ventricle dilatation, Patent d... |
ORPHA:96148 |
| Spinocerebellar Ataxia 48 |
|
Cachexia, Ataxia, Gait ataxia, Dysmetria |
OMIM:618093 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short stature, Pulmonic stenosis, Spina bifida occulta, Transposition of the great arteries, Peri... |
OMIM:617877 |
| Mosaic Trisomy 9 |
|
Atrial septal defect, Hypoplasia of penis, Hypoplastic female external genitalia, Endocardial fib... |
ORPHA:99776 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Patent ductus arteriosus, Umbilical hernia, Short stature |
ORPHA:1516 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1532 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Immotile sperm, Male infertility, Abnormal sperm morphology |
OMIM:608653 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Splenomegaly, Pulmonic stenosis, Right ventricular hypertrophy, Patent ... |
OMIM:616028 |
| Ellis Van Creveld Syndrome |
|
Failure to thrive, Neonatal short-limb short stature, Atrial septal defect, Atrioventricular cana... |
ORPHA:289 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613154 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Choreoathetosis |
OMIM:221950 |
| Marden-Walker Syndrome |
|
Failure to thrive, Hydrocephalus, Severe short stature, Abnormal penis morphology, Hypospadias, A... |
ORPHA:2461 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Lateral ventricle dilatation, Cryptorchidism, Increased CSF lactate, Intrauterine growth retardation |
ORPHA:565624 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Glioma, Micropenis, Occipital encephalocele, Abnormal heart morphology |
OMIM:241800 |
| 8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Hypoplastic left heart, Pulmonary artery stenosis, Atrioventr... |
ORPHA:251071 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:102200 |
| Tangier Disease |
|
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy |
OMIM:205400 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
| Nephronophthisis 2 |
|
Situs inversus totalis, Enlarged kidney |
OMIM:602088 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Rhizomelic leg shortening, Short stature, Colpocephaly, Hypospadias, Dilated third ventricle, Rhi... |
ORPHA:397715 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Ataxia, Hypogonadism |
ORPHA:97229 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:225050 |
| Familial Dilated Cardiomyopathy |
|
Left ventricular hypertrophy, Right ventricular dilatation |
ORPHA:217607 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia, Hepatomegaly |
OMIM:613095 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Short stature, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, V... |
OMIM:218350 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Hepatomegaly, Arthrogryposis multiplex congenita, Right ventricular hy... |
OMIM:613404 |
| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly, Intrauterine growth ret... |
ORPHA:572798 |
| Carpenter Syndrome 1 |
|
Precocious puberty, Atrial septal defect, External genital hypoplasia, Short stature, Pulmonic st... |
OMIM:201000 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation, Failure to thrive in infancy, C... |
ORPHA:858 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Gliosis, Increased CSF protein, Astrocytosis |
ORPHA:204 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Lateral ventricle dilatat... |
ORPHA:457279 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Cachexia, Inability to walk, Intrauterine growth retardation, Failure to thrive in infancy |
OMIM:616801 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Johanson-Blizzard Syndrome |
|
Abnormal vagina morphology, Abnormal cardiac septum morphology, Failure to thrive, Hypoplasia of ... |
ORPHA:2315 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
| 22Q11.2 Duplication Syndrome |
|
Growth delay, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Urethral st... |
ORPHA:1727 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... |
OMIM:617959 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Occipital encephalocele |
ORPHA:352682 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... |
ORPHA:268 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619302 |
| Marden-Walker Syndrome |
|
Micropenis, Hypospadias, Dextrocardia, Postnatal growth retardation, Cryptorchidism, Intrauterine... |
OMIM:248700 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Dextrocardia, Spina bifida |
ORPHA:2437 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:99095 |
| Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Abnormal tricuspid valve morphology, Meningocele |
ORPHA:1759 |
| Silver-Russell Syndrome |
|
Abnormal vagina morphology, Precocious puberty, Postnatal growth retardation, Short stature, Abno... |
ORPHA:813 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Skeletal myopathy, Distal amyotrophy, Noncompaction cardiomyopathy,... |
ORPHA:3208 |
| Pettigrew Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Hypospadias, Ventriculomegaly, Umbilical hernia, Cryptorchidism, Agenesis of corpu... |
OMIM:175700 |
| Cog5-Cdg |
|
Short stature, Micropenis, Lateral ventricle dilatation, Cryptorchidism, Intrauterine growth reta... |
ORPHA:263487 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... |
OMIM:609637 |
| Achondroplasia |
|
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia |
OMIM:100800 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Postnatal growth retardati... |
ORPHA:300570 |
| Facial Dysmorphism With Multiple Malformations |
|
Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arterie... |
OMIM:227255 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Secundum atrial septal defect |
OMIM:202650 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricular septal defect,... |
OMIM:615355 |
| Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic bronchitis, Hepatocellular carcinoma, Gastric varix, Bronchiectasis |
OMIM:613490 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Bifid scrotum, Hypospadias, Cachexia, Ventricular septal defect, Growth delay,... |
ORPHA:217346 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Agenesis of corpus callosum, Frontal encephalocele, Arrhinencephaly |
ORPHA:1528 |
| Joubert Syndrome With Ocular Defect |
|
Dextrocardia, Hydrocephalus, Agenesis of corpus callosum, Encephalocele |
ORPHA:220493 |
| Central Precocious Puberty |
|
Hydrocephalus, Premature thelarche, Increased body weight, Isosexual precocious puberty, Proporti... |
ORPHA:759 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial septal defect, Subaortic ventri... |
OMIM:612098 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Hypopl... |
OMIM:220210 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Micropenis, Anencephaly, Ventriculomegaly, Decreased testicular size, Occipital en... |
OMIM:615287 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Ciliary dyskinesia, Nasal polyposis, Immotile cilia, Absent respiratory ciliary axoneme radial sp... |
OMIM:242670 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Lateral ventricle dilatation, Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:488627 |
| Temple Syndrome |
|
Hydrocephalus, Precocious puberty, Postnatal growth retardation, Small for gestational age, Short... |
ORPHA:254516 |
| X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
| Mosaic Trisomy 1 |
|
Micropenis, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect, Lateral ve... |
ORPHA:1692 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Aortic valve stenosis, Dilated fourth ventricle, Patent ductus arteriosus, Vascula... |
OMIM:220220 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Patent foramen ov... |
OMIM:208085 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Left ventricular hypertrophy, Biventricular hypertrophy, Patent forame... |
OMIM:615474 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus |
ORPHA:83473 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... |
ORPHA:1686 |
| Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Short stature, Patent ductus arteriosus, ... |
ORPHA:93274 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis |
ORPHA:990 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility |
OMIM:619696 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
OMIM:182940 |
| Pagod Syndrome |
|
Hypoplastic left heart, Short stature, Agonadism, Abnormal morphology of female internal genitali... |
ORPHA:991 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Failure to thrive, Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Choreoat... |
ORPHA:261197 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly |
OMIM:610333 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Increased CSF protein, W... |
ORPHA:298 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces |
ORPHA:2148 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Cryptorchidism, Patent foramen ovale |
OMIM:616789 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Hydrocephalus, Aortic valve stenosis |
OMIM:615599 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Bilateral cryp... |
ORPHA:544488 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly, Hypoplastic female external genitalia, Cryptorchidism, Agenesis ... |
OMIM:618577 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Male urethral meatus stenosis, Hypospadias, Dilated third ventricle, Left s... |
ORPHA:464738 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Gait disturbance, Dilated cardiomyopathy, Ventriculomegaly, Intrauterine growth re... |
ORPHA:272 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Lateral ventricle dilatation, Glandular hypospadias, Abnormal preputium morp... |
ORPHA:293725 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Right ventricular hypertrophy |
ORPHA:217563 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:304100 |
| Congenital Aortic Valve Stenosis |
|
Aortic valve calcification, Aortic valve stenosis, Aortic valve atresia, Left ventricular hypertr... |
ORPHA:3093 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Umbilical hernia |
ORPHA:380 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Camptodactyly |
OMIM:611209 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Gait ataxia, Ventriculomeg... |
ORPHA:248111 |
| Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Left ventricular noncompaction |
OMIM:163800 |
| Inherited Creutzfeldt-Jakob Disease |
|
Stroke-like episode, Increased CSF protein, Astrocytosis |
ORPHA:282166 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:203450 |
| Ring Chromosome 10 Syndrome |
|
Cachexia, Intrauterine growth retardation |
ORPHA:1438 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Short stature, Cachexia, Gait disturbance, Choreoathetosis, Failure to thrive in infancy |
ORPHA:702 |
| Lissencephaly 5 |
|
Hydrocephalus, Occipital encephalocele |
OMIM:615191 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Short stature |
ORPHA:1389 |
| Neu-Laxova Syndrome 1 |
|
Intrauterine growth retardation, Choroid plexus cyst, Bifid uterus, Short umbilical cord, Hydrane... |
OMIM:256520 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Progressive Non-Fluent Aphasia |
|
Astrocytosis |
ORPHA:100070 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly |
OMIM:239850 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Ataxia, Cardiomegaly, Lethargy |
ORPHA:42 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Basal ganglia gliosis, Astrocytosis |
ORPHA:225154 |
| Whipple Disease |
|
Hydrocephalus, Ataxia, Cachexia, Myocarditis, Erectile dysfunction, Pericarditis |
ORPHA:3452 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Mend Syndrome |
|
Hydrocephalus, Aortic valve stenosis, Short stature, Cryptorchidism, Dandy-Walker malformation |
OMIM:300960 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus |
ORPHA:397951 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Tetralogy o... |
ORPHA:3426 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis |
ORPHA:275864 |
| Primary Pulmonary Hypoplasia |
|
Dextrocardia, Failure to thrive, Secundum atrial septal defect, Intrauterine growth retardation |
ORPHA:2257 |
| Ververi-Brady Syndrome |
|
Intrauterine growth retardation, Transposition of the great arteries, Short stature |
OMIM:617982 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Short stature, Pulmonic stenosis, Cryptorchidism, Hypertrophic cardiomyopathy |
ORPHA:2701 |
| Synaptic Congenital Myasthenic Syndromes |
|
Hand muscle weakness, Right ventricular hypertrophy, Type 2 muscle fiber atrophy, Scapular wingin... |
ORPHA:98915 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:619167 |
| Meckel Syndrome, Type 4 |
|
Hydrocephalus, Atrial septal defect, Anencephaly, Ventricular septal defect, Meningocele, Encepha... |
OMIM:611134 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta |
OMIM:183802 |
| Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251915 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Patent ductus arteriosus |
ORPHA:251046 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Anterior encephalocele |
OMIM:614195 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Growth delay, Atrial septal defect, Pulmonic stenosis, Tetralogy o... |
OMIM:179613 |
| Pulmonary Hypertension, Primary, 1 |
|
Right ventricular hypertrophy |
OMIM:178600 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Intrauterine growth retardation, Severe failure to thrive, Short stature |
ORPHA:371364 |
| Thanatophoric Dysplasia |
|
Disproportionate short-limb short stature, Hydrocephalus, Atrial septal defect, Patent ductus art... |
ORPHA:2655 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Micropenis, Hypospadias, Patent ductus arteriosus, Umbilical hernia, Cryptorchidism |
ORPHA:171839 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hyp... |
ORPHA:7 |
| Prader-Willi Syndrome Due To Translocation |
|
External genital hypoplasia, Short stature, Hypogonadotropic hypogonadism, Lateral ventricle dila... |
ORPHA:177907 |
| Aorto-Ventricular Tunnel |
|
Aorto-ventricular tunnel, Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal aor... |
ORPHA:3400 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Ventricular septal defect, Pa... |
ORPHA:77298 |
| Aredyld Syndrome |
|
Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:1133 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Cryptorchid... |
OMIM:612938 |
| Mental Retardation, Buenos Aires Type |
|
Partial agenesis of the corpus callosum, Hypospadias, Hydrocephalus, Atrial septal defect |
OMIM:249630 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Micropenis, Tetralogy of Fallot, Dextrocardia, Cryptorchidism, Agenesis of co... |
ORPHA:96092 |
| Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Micropenis, Atrioventricular canal defect, Coarctation of aorta, Dextrocardia, Cryptorchidism, Ag... |
OMIM:618929 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
| Tetrasomy 12P |
|
Cachexia, Short stature |
ORPHA:884 |
| Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Disproportionate short-limb short stature, Hypospadias, Situs inversus ... |
ORPHA:1505 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy |
ORPHA:251274 |
| Triploidy |
|
Abnormal cardiac septum morphology, Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hyposp... |
ORPHA:3376 |
| Knobloch Syndrome |
|
Patent ductus arteriosus, Dextrocardia, Hydrocephalus, Occipital encephalocele |
ORPHA:1571 |
| Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology |
ORPHA:922 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... |
OMIM:619910 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Short stature, Patent ductus arteriosus, Ventriculomegaly, Cryptorchidism |
OMIM:609757 |
| Flynn-Aird Syndrome |
|
Cachexia, Ataxia |
ORPHA:2047 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Infertility, Ataxia, Reduced sperm motility, Truncal ataxia, Difficulty walking... |
ORPHA:320391 |
| Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
| Vacterl Association With Hydrocephalus |
|
Hydrocephalus, Stillbirth, Aqueductal stenosis, Abnormal heart morphology |
OMIM:276950 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly |
ORPHA:2182 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Hypoplasia of penis, Short stature, Cachexia, Decreased testicular size, Hypogo... |
ORPHA:85293 |
| Bresek Syndrome |
|
Hydrocephalus, Neonatal death, Decreased testicular size, Growth delay, Cryptorchidism, Intrauter... |
ORPHA:85284 |
| Trisomy 18 |
|
Atrial septal defect, Holoprosencephaly, Short stature, Cachexia, Anencephaly, Abnormal morpholog... |
ORPHA:3380 |
| Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Dilation of Virchow-Robin ... |
OMIM:619955 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Severe short stature, Cachexia, Ventriculomegaly, Premature ovarian insufficiency |
OMIM:610965 |
| Peripartum Cardiomyopathy |
|
Left ventricular hypertrophy, Myocarditis, Dilated cardiomyopathy, Left atrial enlargement, Abnor... |
ORPHA:563 |
| Hydrocephalus With Associated Malformations |
|
Hydrocephalus, Intrauterine growth retardation |
OMIM:236640 |
| Rett Syndrome |
|
Short stature, Gait apraxia, Cachexia, Truncal ataxia, Gait ataxia |
OMIM:312750 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Right ventricular hypertrophy |
ORPHA:275766 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
| Optic Pathway Glioma |
|
Growth delay, Hydrocephalus, Precocious puberty |
ORPHA:2086 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Hydrocephalu... |
ORPHA:2306 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Astrocytosis |
OMIM:172500 |
| Halperin-Birk Syndrome |
|
Intrauterine growth retardation, Ventriculomegaly, Perimembranous ventricular septal defect, Semi... |
OMIM:618651 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Short stature |
OMIM:109120 |
| Meckel Syndrome |
|
Hydrocephalus, Urethral atresia, Cryptorchidism, Male pseudohermaphroditism, Anencephaly, Situs i... |
ORPHA:564 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus, Umbilical hernia |
ORPHA:2181 |
| Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Immotile cilia |
OMIM:618801 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Short stature, Ventricular septal defect, Dextrocardia, Coron... |
OMIM:614294 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus, Abdominal situs inversus |
OMIM:618699 |
| 1Q44 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Hydrocephalus, Short stature, Ventriculomegaly, Growth delay,... |
ORPHA:238769 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Spina bifida, Agenesis of corpus callosum, Cervical myelopathy |
OMIM:207950 |
| Mucopolysaccharidosis, Type X |
|
Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic valve stenosis |
OMIM:619698 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short stature |
OMIM:300558 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralo... |
ORPHA:2184 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Atrial septal defect, Hepatomegaly, Aortic valve stenosis, Splenomegaly, Enlarged kidney, Situs i... |
OMIM:208540 |
| X-Linked Creatine Transporter Deficiency |
|
Athetosis, Cachexia, Ataxia, Short stature |
ORPHA:52503 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Hydrocephalus, Cryptorchidism, Hypogonadism |
OMIM:601794 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Cardiomegaly |
OMIM:269920 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Cleft palate, Abnormal lung lobation, Abnormal aortic morphology, Truncus ar... |
ORPHA:2516 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Aortopulmonary collateral arte... |
OMIM:618780 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
| Isolated Cleft Lip |
|
Situs inversus totalis |
ORPHA:199302 |
| Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism, Coarctation of aorta, Ventricular sept... |
OMIM:300514 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Hydrocephalus, Ataxia, Short stature |
ORPHA:220295 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries, Short stature |
OMIM:619995 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lateral ventricle dilatation |
ORPHA:2822 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Cachexia |
ORPHA:93941 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus |
OMIM:615219 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus, Intrauterine growth retardation |
ORPHA:1914 |
| Joubert Syndrome 14 |
|
Growth delay, Hydrocephalus, Dandy-Walker malformation, Encephalocele |
OMIM:614424 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss, Ovarian neoplasm, Testicular neoplasm |
ORPHA:83469 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
| Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
| Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
| Distal Trisomy 5Q |
|
Short stature, Hypospadias, Ventricular septal defect, Dextrocardia, Cryptorchidism |
ORPHA:96097 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Hydrocephalus, Hypoplasia of the uterus, Atrial septal defect, Micropenis, Short stature... |
OMIM:309801 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis |
OMIM:307000 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Hydrocephalus, Ventriculomegaly, Short stature |
OMIM:615630 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
| Hydrolethalus |
|
Hydrocephalus, Anencephaly, Arrhinencephaly, Abnormal fallopian tube morphology, Cryptorchidism, ... |
ORPHA:2189 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Short stature, Colpocephaly, Ventriculomegaly, Intrauterine growth retardation |
OMIM:619833 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Short stature, Abnormality of... |
OMIM:614886 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Functioning Gonadotropic Adenoma |
|
Amenorrhea, Infertility, Hydrocephalus, Impotence, Ovarian cyst, Oligospermia, Abnormality of the... |
ORPHA:91348 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Dilated fourth ventricle, Agenesis of corpus callosum, Ventriculomegaly, Occipital... |
ORPHA:370959 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Oligospermia, Primary amenor... |
ORPHA:52901 |
| Wolman Disease |
|
Cachexia, Growth delay |
ORPHA:75233 |
| Methylcobalamin Deficiency Type Cble |
|
Failure to thrive, Hydrocephalus, Ventriculomegaly, Postnatal growth retardation, Intrauterine gr... |
ORPHA:2169 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cleft palate, Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology |
ORPHA:1166 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
| Ring Chromosome 7 Syndrome |
|
Hydrocele testis, Severe intrauterine growth retardation, Holoprosencephaly, Short stature, Hypos... |
ORPHA:1449 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
High palate, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm |
OMIM:616166 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia, Abnormal aortic morphology |
ORPHA:3405 |
| Cardiac-Urogenital Syndrome |
|
Ventricular septal defect, Ambiguous genitalia, Patent urachus, Unilateral cryptorchidism, Tetral... |
OMIM:618280 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Hydrocephalus |
OMIM:600991 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Coach Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
| Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature |
ORPHA:2635 |
| Emanuel Syndrome |
|
Failure to thrive, Hydrocephalus, Infertility, Atrial septal defect, Aortic valve stenosis, Micro... |
ORPHA:96170 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Atrial septal defect, Short stature, Ventricular septal defect, ... |
OMIM:609053 |
| Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Stroke, Arterial fibromuscular dysplasia |
OMIM:135580 |
| Dural Sinus Malformation |
|
Hydrocephalus, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal ... |
ORPHA:97339 |
| Isolated Congenital Hypoglossia/Aglos |
