| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy |
OMIM:115210 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Glycogen Storage Disease 0, Muscle |
|
Cardiomyopathy, Decreased muscle glycogen content, Left atrial enlargement, Left ventricular hype... |
OMIM:611556 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
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 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613876 |
| Atrial Fibrillation, Familial, 6 |
|
Left atrial enlargement, Left ventricular hypertrophy |
OMIM:612201 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Myofiber disarray, Left ventricular hypertrophy |
OMIM:614676 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613874 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Total anomalous pulmonary venous re... |
OMIM:614779 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Endocardial fibrosis, Dilated cardiomyopathy, Left ventricular hy... |
OMIM:601493 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:123155 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber... |
OMIM:612158 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis |
OMIM:620032 |
| Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Left Isomerism, Congenitally corrected transposition of the great arterie... |
OMIM:618300 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Abdominal situs inversus |
OMIM:619607 |
| Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Dilated cardiomyopathy, Left ventric... |
OMIM:615248 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Pulmonic stenosis, Enlarged kidney, Aortic valve stenosis, Hypertrophic c... |
OMIM:615382 |
| Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Absent outer dynein arms, Absent inner dynein arms, Infertility |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis |
OMIM:608644 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
| Ciliary Dyskinesia, Primary, 12 |
|
Situs inversus totalis, Reduced sperm motility, Immotile sperm, Short stature, Abnormal central m... |
OMIM:612650 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... |
OMIM:253700 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis |
OMIM:300991 |
| Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Immotile sperm, Abdominal situs ambiguus, Absent outer dynein arms, Absen... |
OMIM:614874 |
| Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:613694 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Abnormal axonemal organization of respiratory motile cilia, Immotile sper... |
OMIM:613807 |
| Band Heterotopia |
|
Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation, Hydrocephalus |
OMIM:600348 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, Absent muscle dystr... |
ORPHA:206546 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis |
OMIM:612518 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:614679 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, La... |
OMIM:609637 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms, Infertility |
OMIM:618063 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Atrial septal defect, Short stature, Lateral ventricle dilatation, Pat... |
OMIM:618330 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Cryptorchidism, Abnormal morphology of female internal genitalia, Micropenis, ... |
ORPHA:1926 |
| Distal Duplication 14Q |
|
Abnormal aortic morphology, Abnormal lung lobation, Patent ductus arteriosus |
ORPHA:1705 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation, Ventricular septal defect |
OMIM:616816 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, EMG: myopathic abnormalities, Right ventricular hypertrophy, Achilles tendon contra... |
ORPHA:353 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Absent outer dynein arms, Male infertility |
OMIM:612444 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis, Lateral ventricle dilatation |
OMIM:300982 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia, Nasal polyposis, Infertility, Absent inner and outer dynein... |
OMIM:606763 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Nasal polyposis, Short sperm flagella, Coiled sperm flagella, Male infert... |
OMIM:620197 |
| Right Atrial Isomerism |
|
Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal... |
OMIM:208530 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia |
OMIM:617577 |
| Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Reduc... |
OMIM:618433 |
| Ciliary Dyskinesia, Primary, 32 |
|
Situs inversus totalis, Infertility, Absent respiratory ciliary axoneme radial spokes |
OMIM:616481 |
| Ciliary Dyskinesia, Primary, 26 |
|
Situs inversus totalis, Absent outer dynein arms, Reduced sperm motility, Infertility |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis |
OMIM:614017 |
| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:604213 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613251 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... |
OMIM:618052 |
| Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Abdominal situs ambiguus |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis |
OMIM:615451 |
| Diencephalic Syndrome |
|
Long penis, Decreased body weight, Cachexia, Hydrocephalus |
ORPHA:1672 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Mesocardia, Dextrocardia, Atrioventricular canal defect, Double outlet ri... |
OMIM:605376 |
| Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Dextrocardia, Nasal polyposis, Infertility, Reduced sperm motility, Absen... |
OMIM:615444 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea... |
OMIM:604169 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Ventricular septal defect, Left ventricular hypertrophy, Tetralogy... |
OMIM:108900 |
| Ciliary Dyskinesia, Primary, 24 |
|
Situs inversus totalis |
OMIM:615481 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Ventricular septal defect, Abnormal CSF pyruvate family ... |
ORPHA:79243 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplasia of right ventricle, Atrial septal defect, Total ... |
OMIM:616749 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Ventricular... |
ORPHA:1908 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus |
OMIM:166990 |
| Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Martsolf Syndrome 2 |
|
Short stature, Hypogonadotropic hypogonadism, Lateral ventricle dilatation |
OMIM:619420 |
| Ciliary Dyskinesia, Primary, 15 |
|
Situs inversus totalis, Abnormal axonemal organization of respiratory motile cilia, Nasal polypos... |
OMIM:613808 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Atrioventricular canal defect, Neonatal death, Persistent left super... |
OMIM:314390 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
| Mulibrey Nanism |
|
Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
| Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Hepatomegaly, Atrial septal defect |
OMIM:619881 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Atrial situs ambiguous, Hydrocephalus, Nasal polyposis, Abnormal heart mo... |
ORPHA:244 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Cryptorchidism, Ataxia, Atrial septal defect, Ventricular septal defect, ... |
OMIM:249270 |
| Atrial Fibrillation, Familial, 10 |
|
Right ventricular dilatation, Left atrial enlargement, Left ventricular hypertrophy |
OMIM:614022 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum, Short stature, Growth delay |
OMIM:614019 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Cardiomyopathy, Triceps... |
ORPHA:86812 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:1538 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia, Nasal polyposis, Ventricular septal defect, Absent outer dy... |
OMIM:616037 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Male infertility, Absent inner and outer dynein arms, Nasal polyposis |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 28 |
|
Situs inversus totalis, Dynein arm defect of respiratory motile cilia |
OMIM:615505 |
| Myofibrillar Myopathy 10 |
|
Left ventricular hypertrophy, Knee flexion contracture, EMG: myopathic abnormalities, Flexion con... |
OMIM:619040 |
| Spermatogenic Failure 65 |
|
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... |
OMIM:619712 |
| Moynahan Syndrome |
|
Cachexia, Short stature, Hypogonadism |
ORPHA:2574 |
| Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:613697 |
| Pulmonary Hypertension, Primary, 5 |
|
Right ventricular hypertrophy |
OMIM:265400 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Hypertrophic c... |
OMIM:608751 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Ventricular septal... |
ORPHA:1209 |
| Ciliary Dyskinesia, Primary, 27 |
|
Situs inversus totalis |
OMIM:615504 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Reduced progressive sperm motility, Short sperm flagel... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Umbilical hernia, Intrauterine growth retardation, Lateral ventricle d... |
OMIM:617751 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Myocardial fibrosis, Left ventricular hypertrophy |
OMIM:613873 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
| 1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Tetralogy of Fallot, Hydrocephalus, Hypospadias |
ORPHA:250994 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Weakness of facial musculature, Muscle fiber atrophy, Right ventricu... |
ORPHA:324604 |
| Masa Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Short stature, Hydrocephalus |
OMIM:303350 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Ventriculomegaly, Astrocytosis, Atrial septal defect |
OMIM:611087 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Spina bifida occulta, Lateral ventricle dilatation, Agenesis of corpus... |
OMIM:618736 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertrophy |
OMIM:619048 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Atrioventricular canal d... |
OMIM:306955 |
| Loeffler Endocarditis |
|
Left atrial enlargement, Left ventricular hypertrophy, Abnormal tricuspid chordae tendinae morpho... |
ORPHA:75566 |
| Alexander Disease Type I |
|
Failure to thrive, Cachexia, Ataxia, Hydrocephalus |
ORPHA:363717 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Nasal polyposis, Communicating hydrocephalus, Absent outer dynein arms, M... |
OMIM:244400 |
| Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615482 |
| Spermatogenic Failure 54 |
|
Reduced sperm motility, Cryptozoospermia, Short sperm flagella, Coiled sperm flagella, Abnormal s... |
OMIM:619379 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613838 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... |
OMIM:231060 |
| Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis |
OMIM:612776 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
| Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Reduced sperm motility, Absent sperm axoneme ... |
OMIM:619177 |
| Spermatogenic Failure 56 |
|
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... |
OMIM:619515 |
| Weiss-Kruszka Syndrome |
|
Colpocephaly, Left ventricular hypertrophy, Ventricular septal defect, Dextrotransposition of the... |
OMIM:618619 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Coarctation of aorta, Patent ductus arteriosus, Neonatal death |
OMIM:601612 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:607091 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short stature, Hypergonadotropic hypogonadism, Azoospermia, Mitral valve prolapse,... |
ORPHA:2183 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Basal ganglia gliosis, Lateral ventricle dilatation |
OMIM:607596 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Atrial septal defect... |
ORPHA:860 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Colpocephaly, Abnormal heart morphology, Hydrocephalus |
ORPHA:2185 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Hepatomegaly, Aortic valve stenosis, ... |
OMIM:615415 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Ectopia cordis, Patent ductus arteriosus, Hypospadias, Transposition ... |
OMIM:313850 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617967 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Short stature, Lateral ventricle dilatation, Ventricul... |
OMIM:619995 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Failure to thrive, Gait ataxia, Increased CSF lactate, Weight loss |
OMIM:612075 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tai... |
OMIM:301059 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation, Hydrocephalus |
OMIM:602200 |
| Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Dextrocardia, Hydrocephalus, Myelomeningocele, Unilateral vertebral arter... |
OMIM:613686 |
| Craniosynostosis 6 |
|
Dandy-Walker malformation, Spina bifida occulta, Lateral ventricle dilatation, Agenesis of corpus... |
OMIM:616602 |
| Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Right ventricular hypertrophy, ... |
OMIM:267010 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces, Partial agenesis of the corpus ca... |
OMIM:619517 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Frontal encephalocele, Cryptorchidism, Hydrocephalus, Aortic aneurysm, Patent ductus arteriosus |
ORPHA:261102 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis |
OMIM:615434 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Pulmonic stenosis |
OMIM:609008 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
| Dextrocardia |
|
Situs inversus totalis, Congenital malformation of the great arteries, Abnormality of abdominal s... |
ORPHA:1666 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Subdural hemorrhage, Lateral ventricle dilatation, Ventriculomegaly, Extra-axial cerebrospinal fl... |
OMIM:618291 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gliosis, Lateral ventricle dilatation |
OMIM:221770 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Dysplastic tricuspid valve, Dysplastic pulmonary valve, Hydrocephalus, Atrial septal defect, Intr... |
OMIM:612863 |
| Fetal Trimethadione Syndrome |
|
Ambiguous genitalia, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Intrau... |
ORPHA:1913 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Gait disturbance, Failure to thrive, Hydrocephalus |
ORPHA:26 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy |
OMIM:540000 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Right ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:444013 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Communicating hydrocephalus, Tetralogy of Fallot, Intrauterine growth ... |
ORPHA:1780 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy |
OMIM:620145 |
| Biemond Syndrome Type 2 |
|
Delayed puberty, Hypogonadism, Hydrocephalus, Obesity, Short stature, Hypogonadotropic hypogonadi... |
ORPHA:141333 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Short stature |
ORPHA:1144 |
| Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Pulmonic stenosis, Atrial septal defect, Hydrocephalus, Holoprosencephaly, Dilated... |
OMIM:253800 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Severe postnatal growth retardation, Lateral ventricle dilatation, Dil... |
ORPHA:3078 |
| Ciliary Dyskinesia, Primary, 6 |
|
Abnormal ciliary motility, Absent/shortened outer dynein arms, Abnormal respiratory motile cilium... |
OMIM:610852 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Dextrocardia, Micropenis, Coarctation of aorta, Hydrocephalus, Ven... |
OMIM:264480 |
| Renpenning Syndrome |
|
Decreased testicular size, Severe short stature, Cachexia, Heterotaxy, Growth delay, Hypospadias |
ORPHA:3242 |
| Meacham Syndrome |
|
Hypoplastic left heart, Right aortic arch, Ventricular septal defect, Atrial septal defect, Tetra... |
OMIM:608978 |
| Spermatogenic Failure 39 |
|
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male ... |
OMIM:618643 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Short stature, Ataxia, Ventriculomegaly |
ORPHA:1933 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Agenesis of corpus callosum, Lateral ventricle dilatation |
ORPHA:300573 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:618228 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Left ventricular hypertrophy, Muscular dystrophy, Skeletal muscle hypertrophy, Faci... |
OMIM:613156 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Situs inversus totalis, Left Isomerism, Dextrocardia, Hypoplastic left heart, Pulmonic stenosis, ... |
OMIM:619702 |
| 16P13.11 Microduplication Syndrome |
|
Coarctation of aorta, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Cryptorchidism, Midshaft hypospadias, Short stature |
ORPHA:2863 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Reduced sperm motility, Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagell... |
OMIM:620084 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Short stature, Immotil... |
OMIM:612649 |
| Glutamine Deficiency, Congenital |
|
Decreased CSF glutamine concentration, Subependymal cysts, Lateral ventricle dilatation, Neonatal... |
OMIM:610015 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defect, Total anoma... |
OMIM:613751 |
| Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia, Micropenis, Hypogonadism, Obesity |
OMIM:615994 |
| Christianson Syndrome |
|
Gait ataxia, Cachexia, Truncal ataxia, Ventriculomegaly |
ORPHA:85278 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Growth delay |
OMIM:615716 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri... |
ORPHA:555874 |
| Chronic Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Cardiomyopathy, Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm |
OMIM:613780 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Atrial septal defect |
OMIM:608629 |
| Bilateral Generalized Polymicrogyria |
|
Short stature, Lateral ventricle dilatation, Growth delay |
ORPHA:208447 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation |
ORPHA:284417 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:601494 |
| X-Linked Intellectual Disability, Wilson Type |
|
Growth delay, Lateral ventricle dilatation, Hydrocele testis |
ORPHA:85290 |
| Meacham Syndrome |
|
Situs inversus totalis, Conotruncal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic lef... |
ORPHA:3097 |
| Partial Atrioventricular Septal Defect |
|
Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Anomalous pulmonary venous r... |
ORPHA:1330 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Ataxia, Weight loss |
OMIM:613662 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Left ... |
OMIM:608758 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Camptodactyly of toe, Camptodactyly, Left atrial enlargement, Left ventricular hypertrophy, Cardi... |
OMIM:300280 |
| Cach Syndrome |
|
Gonadal dysgenesis, Intrauterine growth retardation, Lateral ventricle dilatation, Growth delay |
ORPHA:135 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:215520 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy |
OMIM:614654 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... |
ORPHA:529970 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
| Bronchopulmonary Dysplasia |
|
Right ventricular hypertrophy |
ORPHA:70589 |
| Ciliary Dyskinesia, Primary, 5 |
|
Situs inversus totalis |
OMIM:608647 |
| Spermatogenic Failure 58 |
|
Immotile sperm, Reduced progressive sperm motility, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy |
OMIM:616733 |
| Adams-Oliver Syndrome 2 |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:614219 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Abnormal heart v... |
ORPHA:169186 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
| Mcdonough Syndrome |
|
Cachexia, Cryptorchidism, Short stature |
ORPHA:2471 |
| Congenital Fibrinogen Deficiency |
|
Right ventricular hypertrophy, Left ventricular hypertrophy |
ORPHA:335 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Cachexia, Ataxia, Dysmetria |
OMIM:618093 |
| Attrv122I Amyloidosis |
|
Left ventricular hypertrophy, Cardiac amyloidosis, Restrictive cardiomyopathy, Aortic valve steno... |
ORPHA:85451 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Achilles ten... |
OMIM:615418 |
| Nephronophthisis 2 |
|
Situs inversus totalis, Enlarged kidney |
OMIM:602088 |
| Joubert Syndrome |
|
Situs inversus totalis, Encephalocele, Gait disturbance, Ataxia, Hydrocephalus |
ORPHA:475 |
| Slc35A2-Cdg |
|
Tetralogy of Fallot, Intrauterine growth retardation, Short stature, Lateral ventricle dilatation... |
ORPHA:356961 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Right ventricular hypertrophy, Patent foramen ovale, Ventricular septal defect |
OMIM:614261 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis,... |
OMIM:613854 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Dextrocardia, Right aortic arch with mir... |
OMIM:606217 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... |
OMIM:132900 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia, Hepatomegaly |
OMIM:613095 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Intrauterine growth retardation, Growth delay |
ORPHA:488635 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Neonatal death |
OMIM:614870 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cryptorchidism, Micropenis, Short stature, Lateral ventricle dilatation, Gliosis |
OMIM:619847 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Descending aortic dissection, Coronary artery dissection, Ascending aortic dissection, Abdominal ... |
OMIM:615436 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Adams-Oliver Syndrome 5 |
|
Pulmonic stenosis, Right ventricular hypertrophy, Right atrial enlargement, Patent foramen ovale,... |
OMIM:616028 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Descending aortic dissection, Aortic aneurysm, Thoracic aortic aneurysm, Premature coronary arter... |
OMIM:611788 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Congenitally corrected transpositio... |
OMIM:617205 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Gómez-López-Hernández Syndrome |
|
Short stature, Hydrocephalus |
ORPHA:1532 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:619302 |
| Mosaic Trisomy 9 |
|
Cryptorchidism, Dextrocardia, Spina bifida, Ventricular septal defect, Atrial septal defect, Dand... |
ORPHA:99776 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Short stature, Patent ductus arteriosus, Hydrocephalus |
ORPHA:1516 |
| Ellis Van Creveld Syndrome |
|
Situs inversus totalis, Cryptorchidism, Dextrocardia, Abnormal morphology of female internal geni... |
ORPHA:289 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Pulmonic stenosis, Umbilical hernia, Patent foramen ovale, Lateral ventricle dilatation |
OMIM:618914 |
| 8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect, Pulmo... |
ORPHA:251071 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Perimembranous ventricular septal defect, Short stature, Spina bifida occulta,... |
OMIM:617877 |
| Marden-Walker Syndrome |
|
Situs inversus totalis, Dextrocardia, Severe short stature, Hydrocephalus, Ventricular septal def... |
ORPHA:2461 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Right ventricul... |
OMIM:612949 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Cerebral hemorrhage, Lateral ventricle dilatation, Ventriculomegal... |
OMIM:617397 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Inability to walk, Failure to thrive in infancy, Intrauterine growth retardation, Cachexia |
OMIM:616801 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Hypogonadism |
ORPHA:97229 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Failure to thrive in infancy, Intrauterine growth retardation, Ventriculomegaly, C... |
ORPHA:858 |
| Carpenter Syndrome 1 |
|
Cryptorchidism, External genital hypoplasia, Ventricular septal defect, Atrial septal defect, Umb... |
OMIM:201000 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:225050 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy,... |
ORPHA:3208 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Hepatomegaly, Ventricular sept... |
OMIM:613404 |
| Familial Aortic Dissection |
|
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... |
ORPHA:229 |
| Congenital Gerbode Defect |
|
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Abnormal tricuspid valve le... |
ORPHA:99095 |
| Atrial Septal Defect 2 |
|
Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Gliosis, Astrocytosis, Increased CSF protein concentration |
ORPHA:204 |
| Johanson-Blizzard Syndrome |
|
Dextrocardia, Abnormal cardiac septum morphology, Intrauterine growth retardation, Short stature,... |
ORPHA:2315 |
| Developmental And Epileptic Encephalopathy 66 |
|
Dextrocardia, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Broad-based gait |
OMIM:618067 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hydrocephalus, Ventricular septal defect, Short stature, Ventriculomegaly, Patent... |
OMIM:218350 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Thoracic aortic... |
OMIM:619657 |
| Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Secundum atrial septal defect |
OMIM:202650 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Right ventricular hypertroph... |
ORPHA:268 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta |
ORPHA:2437 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Interrupted aortic arch, ... |
ORPHA:1727 |
| Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Umbilical hernia, Abnormal heart morphology, Ventriculomegaly, Age... |
OMIM:175700 |
| Conotruncal Heart Malformations |
|
Coarctation of aorta, Complete atrioventricular canal defect, Double outlet right ventricle, Trun... |
OMIM:217095 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
| Pituitary Adenoma 1, Multiple Types |
|
Cardiomyopathy, Left ventricular hypertrophy |
OMIM:102200 |
| Silver-Russell Syndrome |
|
Decreased testicular size, Cryptorchidism, Precocious puberty, Obesity, Failure to thrive in infa... |
ORPHA:813 |
| Fixed Subaortic Stenosis |
|
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... |
ORPHA:3092 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Lateral ventricle dilatation |
OMIM:618606 |
| Familial Dilated Cardiomyopathy |
|
Right ventricular dilatation, Left ventricular hypertrophy |
ORPHA:217607 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Chronic bronchitis, Panacinar emphysema, Bronchiectasis, Gastric varix |
OMIM:613490 |
| Marden-Walker Syndrome |
|
Cryptorchidism, Dextrocardia, Micropenis, Intrauterine growth retardation, Postnatal growth retar... |
OMIM:248700 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Patent foramen ovale, Lateral ventricle dilatation, Atrial septal defect |
OMIM:620075 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation |
OMIM:617854 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly, Hydrocephalus |
OMIM:300886 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Non Rare In Europe: Central Precocious Puberty |
|
Hydrocephalus, Obesity, Isosexual precocious puberty, Increased body weight, Proportionate short ... |
ORPHA:759 |
| Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
| Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus |
ORPHA:83473 |
| Noonan Syndrome 8 |
|
Pulmonic stenosis, Atrial septal defect, Left ventricular hypertrophy, Ventricular septal defect,... |
OMIM:615355 |
| Tangier Disease |
|
Facial diplegia, Left ventricular hypertrophy, Distal amyotrophy, Hepatomegaly, Splenomegaly |
OMIM:205400 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Frontal encephalocele, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:1528 |
| 19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Intrauterine growth retardation, Cachexia, Failure to ... |
ORPHA:217346 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Dextrocardia, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:220493 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Ciliary dyskinesia, Immotile cilia, Absent respiratory ciliary axoneme radial sp... |
OMIM:242670 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Dextrocardia, Ventricular septal defect, Respiratory insufficiency due to... |
OMIM:615067 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
| Temple Syndrome |
|
Small for gestational age, Cryptorchidism, Hydrocephalus, Obesity, Short stature, Postnatal growt... |
ORPHA:254516 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Atrial septal defect, Abnormal heart morphology, Ventriculomegaly, Failure to thriv... |
ORPHA:261197 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventricular septal bulge, At... |
OMIM:612098 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Muscular dystrophy, Left ventricular hypertrophy |
OMIM:613153 |
| Cardiac Diverticulum |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology, ... |
ORPHA:1686 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Hydrocephalus, Atrial septa... |
OMIM:220210 |
| X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
| Neural Tube Defects, Susceptibility To |
|
Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:304100 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Patent foramen ov... |
OMIM:208085 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Atrial septal defect, Hydrocephalus, Holoprosencephaly, Short stature, Ventriculom... |
ORPHA:93274 |
| Pagod Syndrome |
|
Situs inversus totalis, Encephalocele, Abnormal morphology of female internal genitalia, Ambiguou... |
ORPHA:991 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Patent ductus arteriosus, Vascul... |
OMIM:220220 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation |
OMIM:614105 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Dandy-Walker malformation, Dilated... |
OMIM:613154 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cryptorchidism, Left ventricular hypertrophy, Rhizomelia, Intrauterine growth retardation, Short ... |
OMIM:611209 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis |
ORPHA:990 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Hypoplastic female external genitalia, Agenesis ... |
OMIM:618577 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Cryptorchidism, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Right ventricular hypertrophy |
ORPHA:217563 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Gait disturbance, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly, Dilated cardi... |
ORPHA:272 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Increased CSF protein concentration, Cachexia, Hypergonadotropic hypogonadism, Hypogonadotropic h... |
ORPHA:298 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
| Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, CSF lymphocytic pleiocytosis, Intrauterine growth retardation, Hydrocephalus |
OMIM:610333 |
| Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Cryptorchidism, Hydranencephaly, Spina bifida, Ventricular septal defect, D... |
OMIM:256520 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Aortic valve stenosis, Hydrocephalus |
OMIM:615599 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Atrial septal defect, Ventricular septal defect, ... |
ORPHA:216694 |
| Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:380 |
| Distal Deletion 10Q |
|
Atrial septal defect, Short stature, Lateral ventricle dilatation, Spina bifida occulta, Patent d... |
ORPHA:96148 |
| Juvenile Huntington Disease |
|
Progressive cerebellar ataxia, Ataxia, Ventriculomegaly, Bradykinesia, Gait ataxia, Broad-based g... |
ORPHA:248111 |
| Glutaric Acidemia I |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Lethargy, Cachexia, Ataxia |
ORPHA:42 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Increased CSF lactate, Cryptorchidism, Intrauterine growth retardation, Lateral ventricle dilatation |
ORPHA:565624 |
| Inherited Creutzfeldt-Jakob Disease |
|
Increased CSF protein concentration, Astrocytosis, Stroke-like episode |
ORPHA:282166 |
| Congenital Aortic Valve Stenosis |
|
Endocarditis, Left ventricular hypertrophy, Dysplastic aortic valve, Aortic valve atresia, Aortic... |
ORPHA:3093 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Colpocephaly, Meningocele, Rhizomelic leg shortening, Occipital encephalocele, Short stature, Lat... |
ORPHA:397715 |
| Temple Syndrome |
|
Decreased testicular size, Cryptorchidism, Small for gestational age, Overweight, Hydrocephalus, ... |
OMIM:616222 |
| Noonan Syndrome 14 |
|
Cryptorchidism, Pulmonic stenosis, Short stature, Lateral ventricle dilatation, Hypertrophic card... |
OMIM:619745 |
| Sick Sinus Syndrome 2 |
|
Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy |
OMIM:163800 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cryptorchidism, Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619244 |
| Pelizaeus-Merzbacher Disease |
|
Gait disturbance, Ataxia, Failure to thrive in infancy, Cachexia, Short stature, Choreoathetosis |
ORPHA:702 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Short stature |
ORPHA:1389 |
| Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Cachexia |
ORPHA:1438 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Ventriculomegaly, Hydrocephalus |
OMIM:602501 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Basal ganglia gliosis, Astrocytosis |
ORPHA:225154 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Short stature, Ataxia, Hydrocephalus |
OMIM:618174 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cardiomyopathy, Intrauterine growth retardation, Lateral ventricle dilatation, Ventriculomegaly, ... |
ORPHA:572798 |
| Pallister-Hall-Like Syndrome |
|
Micropenis, Glioma, Hydrocephalus, Occipital encephalocele, Short stature |
OMIM:241800 |
| Scimitar Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Left superior vena cava d... |
ORPHA:185 |
| Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:203450 |
| Whipple Disease |
|
Myocarditis, Ataxia, Hydrocephalus, Cachexia, Erectile dysfunction, Pericarditis |
ORPHA:3452 |
| Cln3 Disease |
|
Left ventricular hypertrophy |
ORPHA:228346 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Lateral ventricle dil... |
ORPHA:457279 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum |
ORPHA:250972 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
| Cog5-Cdg |
|
Cryptorchidism, Micropenis, Intrauterine growth retardation, Short stature, Lateral ventricle dil... |
ORPHA:263487 |
| Ververi-Brady Syndrome |
|
Intrauterine growth retardation, Short stature, Transposition of the great arteries |
OMIM:617982 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus |
ORPHA:397951 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Hepatomegaly, Patent foramen ovale,... |
OMIM:619167 |
| Truncus Arteriosus |
|
Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal... |
ORPHA:3384 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hetero... |
ORPHA:3426 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Dextrocardia, Intrauterine growth retardation, Failure to thrive |
ORPHA:2257 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect, Atrial septal defect, Intra... |
OMIM:611134 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Postnatal growth retardation, Partial agenesis of the corpus callos... |
ORPHA:300570 |
| Synaptic Congenital Myasthenic Syndromes |
|
Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Right ... |
ORPHA:98915 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Hydrocephalus, Short stature, Peripheral pulmonary artery stenosis, La... |
OMIM:619575 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Gliosis, Lateral ventricle dilatation |
OMIM:607485 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Intrauterine growth retardation, Short stature, Severe failure to thrive |
ORPHA:371364 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis |
ORPHA:275864 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Myopathy, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:617713 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Pulmonic stenosis, Hydrocephalus, Short stature, Hypertrophic cardiomyopathy |
ORPHA:2701 |
| Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251915 |
| Complete Atrioventricular Septal Defect |
|
Abnormal cardiac atrium morphology, Hepatomegaly, Primum atrial septal defect, Complete atriovent... |
ORPHA:1329 |
| Recombinant Chromosome 8 Syndrome |
|
Cryptorchidism, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Tetralogy of ... |
OMIM:179613 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Transposition of the great arteries, Aortic root aneurysm, Cerebra... |
OMIM:619910 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum |
OMIM:617296 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Pulmonary artery atresia, Dextrocardia, Coarctation of aorta, Double inlet left ventricle, Ventri... |
OMIM:270100 |
| 6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus |
ORPHA:251046 |
| Aredyld Syndrome |
|
Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:1133 |
| Aorto-Ventricular Tunnel |
|
Abnormal aortic morphology, Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic... |
ORPHA:3400 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Dysplastic corpus callosum |
ORPHA:488627 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Patent foramen ovale, Biventricular hypertrophy, Ventricular septal... |
OMIM:615474 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Pulmonary Hypertension, Primary, 1 |
|
Right ventricular hypertrophy |
OMIM:178600 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Intrauterine growth retardation, Ventr... |
OMIM:225790 |
| Triploidy |
|
Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine ... |
ORPHA:3376 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Micropenis, Hydrocephalus, Umbilical hernia, Patent ductus arteriosus, Hypospadias |
ORPHA:171839 |
| Aicardi-Goutieres Syndrome 9 |
|
Micropenis, Left ventricular hypertrophy, Intrauterine growth retardation, Lateral ventricle dila... |
OMIM:619487 |
| Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventricular septal defect, Holoprosencephaly, Hypoplasia of penis,... |
ORPHA:77298 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Ventricular septal defect, Hydrocephalus, Umbilical hernia, Intrauterine growth r... |
OMIM:612938 |
| Mosaic Trisomy 1 |
|
Pulmonary artery atresia, Coarctation of aorta, Micropenis, Ventricular septal defect, Lateral ve... |
ORPHA:1692 |
| 3C Syndrome |
|
Hypoplastic left heart, Pulmonic stenosis, Hydrocephalus, Ventricular septal defect, Atrial septa... |
ORPHA:7 |
| Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Gait disturbance, Hydrocephalus, Short stature, Ventri... |
OMIM:609757 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly, Dispropor... |
ORPHA:2655 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Cryptorchidism, Dextrocardia, Micropenis, Tetralogy of Fallot, Dandy-Walker malformation, Abnorma... |
ORPHA:96092 |
| Short Rib-Polydactyly Syndrome |
|
Situs inversus totalis, Urogenital sinus anomaly, Intrauterine growth retardation, Abnormal heart... |
ORPHA:1505 |
| Flynn-Aird Syndrome |
|
Cachexia, Ataxia |
ORPHA:2047 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Cryptorchidism, Micropenis, Coarctation of aorta, Atrioventricular canal defect, Ag... |
OMIM:618929 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
| Weaver Syndrome |
|
Cryptorchidism, Umbilical hernia, Lateral ventricle dilatation, Ventriculomegaly, Patent ductus a... |
OMIM:277590 |
| Tetrasomy 12P |
|
Cachexia, Short stature |
ORPHA:884 |
| Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology |
ORPHA:922 |
| Melanosis, Neurocutaneous |
|
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus |
OMIM:249400 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Dilation of Virchow-Robin spaces, Lateral ventricle dilatation |
ORPHA:2148 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Lateral ventricle dilatation, Dysplastic corpus callosum, Bilateral cryptorchidism, Dilation of V... |
ORPHA:544488 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:617349 |
| Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Severe short stature, Cachexia, Failure to thrive, Ventriculomegaly |
OMIM:610965 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly, Hydrocephalus |
ORPHA:2182 |
| Vacterl Association With Hydrocephalus |
|
Stillbirth, Aqueductal stenosis, Abnormal heart morphology, Hydrocephalus |
OMIM:276950 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Small for gestational age, Dextrocardia, Atrial septal defect, Short stature, Failure to thrive, ... |
OMIM:277380 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Decreased testicular size, Hypogonadism, Short stature, Cachexia, Hypoplasia of penis, Broad-base... |
ORPHA:85293 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Atrial septal defect, Left superior vena cava draining to coronary sin... |
ORPHA:464738 |
| Ring Chromosome 7 Syndrome |
|
Situs inversus totalis, Hypogonadism, Severe intrauterine growth retardation, Short stature, Holo... |
ORPHA:1449 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Neonatal death |
OMIM:618186 |
| Vitamin K Antagonist Embryofetopathy |
|
Intrauterine growth retardation, Hydrocephalus, Myelomeningocele |
ORPHA:1914 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Ataxia, Dif... |
ORPHA:320391 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Agenesis of corpus callosum, Lateral ventric... |
OMIM:300952 |
| Trisomy 18 |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Spina bifida, Ventricular septa... |
ORPHA:3380 |
| Gabriele-De Vries Syndrome |
|
Cryptorchidism, Intrauterine growth retardation, Lateral ventricle dilatation, Aortopulmonary col... |
OMIM:617557 |
| Kohlschutter-Tonz Syndrome-Like |
|
Ventriculomegaly, Intrauterine growth retardation, Lateral ventricle dilatation, Ventricular sept... |
OMIM:619229 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Left atrial enlargement, Left ventricular hypertrophy, Abnormal cardiac atrium morph... |
ORPHA:563 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Coarcta... |
ORPHA:99050 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Pituitary Gigantism |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:99725 |
| Knobloch Syndrome |
|
Dextrocardia, Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus |
ORPHA:1571 |
| Bresek Syndrome |
|
Decreased testicular size, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation, Neonat... |
ORPHA:85284 |
| Rett Syndrome |
|
Cachexia, Short stature, Gait apraxia, Gait ataxia, Truncal ataxia |
OMIM:312750 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Glandular hypospadias, Lateral ventricle dilatation, Abnormal preputium morp... |
ORPHA:293725 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy |
ORPHA:251274 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Absent inner and outer dynein arms |
OMIM:618801 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Agenesis of corpus callosum |
OMIM:207950 |
| Optic Pathway Glioma |
|
Growth delay, Hydrocephalus, Precocious puberty |
ORPHA:2086 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Hydrocephalus |
ORPHA:2181 |
| X-Linked Creatine Transporter Deficiency |
|
Cachexia, Short stature, Ataxia, Athetosis |
ORPHA:52503 |
| Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Spina bifida, Lateral ventricle dilatation, Postnatal gr... |
OMIM:304050 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Decreased testicular size, Cryptorchidism, Nonprogressive cerebella... |
OMIM:610198 |
| Carcinoma Of Esophagus |
|
Weight loss, Obesity |
ORPHA:70482 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralo... |
ORPHA:2184 |
| Chromosome 15Q25 Deletion Syndrome |
|
Cryptorchidism, Dextrocardia, Ventricular septal defect, Intrauterine growth retardation, Short s... |
OMIM:614294 |
| Ciliary Dyskinesia, Primary, 43 |
|
Abdominal situs inversus, Noncommunicating hydrocephalus |
OMIM:618699 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| Isolated Cleft Lip |
|
Situs inversus totalis |
ORPHA:199302 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Agenesis of corpus callosum, Short stature, Hydrocephalus |
OMIM:109120 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hydrocephalus |
OMIM:269920 |
| Neurocardiofaciodigital Syndrome |
|
Double inlet left ventricle, Tetralogy of Fallot, Atrial septal defect, Short stature, Lateral ve... |
OMIM:619869 |
| Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Cachexia, Testicular neoplasm, Weight loss |
ORPHA:83469 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Short stature, Ventriculomegaly, Growth delay, Abnormal cardiac septum morphology,... |
ORPHA:238769 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Right aortic arch, Tetralogy of Fallot, Double aortic arch, Aortopulmon... |
OMIM:618780 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Enlarged kidney, Atrial septal defect, Hepatomegaly, Aortic valve stenosi... |
OMIM:208540 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Cryptorchidism, Hypogonadism, Hydrocephalus |
OMIM:601794 |
| Bainbridge-Ropers Syndrome |
|
Cryptorchidism, Intrauterine growth retardation, Lateral ventricle dilatation, Growth delay, Prec... |
OMIM:615485 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Meckel Syndrome |
|
Situs inversus totalis, Encephalocele, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Lobar ... |
ORPHA:564 |
| Bronchogenic Cyst |
|
Atelectasis, Abnormal pleura morphology, Dysphagia, Bronchogenic cyst, Pulmonary cyst, Abnormal s... |
ORPHA:2357 |
| Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
| Cardiac-Urogenital Syndrome |
|
