| Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
| Joubert Syndrome 13 |
|
Pachygyria, Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
| Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
| Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
| Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
| Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
| Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
| Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
| Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
| Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
| Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
| Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
| Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
| Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
| Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
| Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia of the pons,... |
ORPHA:280195 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Male infertility |
OMIM:618948 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cerebellar atrophy, Schizencephaly, Hypoplasia of the pons, Dysgenesi... |
ORPHA:300573 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
| Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
| Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebral... |
ORPHA:166024 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Periventricular cysts, Abnormal corpus callosum morphology, Abnormal brainstem morphology, Abnorm... |
ORPHA:255182 |
| Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Molar tooth sign on MRI, Hydrocephalus, Anencephaly |
OMIM:614120 |
| Ciliary Dyskinesia, Primary, 40 |
|
Azoospermia, Abnormal heart morphology, Infertility, Situs inversus totalis |
OMIM:618300 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Joubert Syndrome 4 |
|
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, El... |
OMIM:609583 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
| Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormality of the b... |
ORPHA:99852 |
| Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal cerebellum m... |
ORPHA:1532 |
| Spinocerebellar Ataxia Type 2 |
|
Abnormal cortical gyration, Postural tremor, Kinetic tremor, Cerebral white matter atrophy, Abnor... |
ORPHA:98756 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Dandy-Walker malformation, Anencephaly, Agenesis of cerebellar vermis, Molar tooth s... |
OMIM:611134 |
| Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Hy... |
OMIM:617542 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
| Joubert Syndrome 22 |
|
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Temporal cortical atrophy, Agenesis o... |
OMIM:615665 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
| Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Polymicrogyria, Abnormal cerebellum morphology |
OMIM:617757 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Impotence |
ORPHA:85447 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
| Joubert Syndrome 30 |
|
Dandy-Walker malformation, Superior cerebellar dysplasia, Cerebellar atrophy, Molar tooth sign on... |
OMIM:617622 |
| Joubert Syndrome 31 |
|
Hypoplasia of the corpus callosum, Molar tooth sign on MRI |
OMIM:617761 |
| Slc35A2-Cdg |
|
Dandy-Walker malformation, Abnormal midbrain morphology, Cerebellar atrophy, Atrophy/Degeneration... |
ORPHA:356961 |
| Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:617127 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis... |
ORPHA:370022 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
| Joubert Syndrome 7 |
|
Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia, Abnormal corpus callos... |
OMIM:611560 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cerebellar cyst, Diffuse white matter abnormalities, Agenesis of corpus callosum, Dilated fourth ... |
ORPHA:370959 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Male infertility |
OMIM:619607 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology, Simplified gyral pattern, Abnormal cerebral cortex morphology |
ORPHA:411493 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Male infertility |
OMIM:612444 |
| Joubert Syndrome 16 |
|
Dandy-Walker malformation, Molar tooth sign on MRI |
OMIM:614465 |
| Meckel Syndrome, Type 10 |
|
Molar tooth sign on MRI, Anencephaly |
OMIM:614175 |
| Adult Krabbe Disease |
|
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal corpus callosum morp... |
ORPHA:206448 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Cardiom... |
OMIM:235200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Joubert Syndrome 17 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614615 |
| Alg3-Cdg |
|
Dandy-Walker malformation, Neural tube defect, Hypoplasia of the pons, Abnormal cerebral morpholo... |
ORPHA:79321 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Agenesis of cerebellar vermis, Abnormal cerebral cortex morphology, Ab... |
ORPHA:163961 |
| Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:607131 |
| Orofaciodigital Syndrome Vi |
|
Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:277170 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Absent mesencephalon, Cerebellar dysplasia, Poorly formed metencephalon |
OMIM:601374 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
| Joubert Syndrome 18 |
|
Molar tooth sign on MRI |
OMIM:614815 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:619306 |
| Joubert Syndrome 2 |
|
Brainstem dysplasia, Dysgenesis of the cerebellar vermis, Agenesis of cerebellar vermis, Abnormal... |
OMIM:608091 |
| Joubert Syndrome 35 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:618161 |
| Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Male infertility, Immotile sperm |
OMIM:614874 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma |
ORPHA:615 |
| Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:608629 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
| Joubert Syndrome With Renal Defect |
|
Tremor, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus, Polymicrogyria, Age... |
ORPHA:220497 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Cerebellar cyst, Abnormal brainstem morphology, Cerebellar vermis hypop... |
ORPHA:370997 |
| Joubert Syndrome 6 |
|
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, El... |
OMIM:610688 |
| Japanese Encephalitis |
|
Abnormal midbrain morphology, Abnormal pons morphology, Opisthotonus, Pill-rolling tremor, Abnorm... |
ORPHA:79139 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... |
ORPHA:860 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI |
OMIM:614464 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dilated third ventricle, Dandy-Walker malformation, Dysgenesis of the cerebellar ver... |
ORPHA:397715 |
| Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... |
OMIM:300257 |
| Joubert Syndrome 37 |
|
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619185 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... |
OMIM:115197 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Male infertility |
ORPHA:48 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| Joubert Syndrome With Ocular Defect |
|
Tremor, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus, Polymicrogyria, Age... |
ORPHA:220493 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Abn... |
ORPHA:68 |
| Joubert Syndrome 1 |
|
Brainstem dysplasia, Occipital myelomeningocele, Dysgenesis of the cerebellar vermis, Agenesis of... |
OMIM:213300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
| Joubert Syndrome 38 |
|
Inferior vermis hypoplasia, Small pituitary gland, Cerebellar vermis hypoplasia, Molar tooth sign... |
OMIM:619476 |
| Timothy Syndrome |
|
Cardiomegaly, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Familial Male-Limited Precocious Puberty |
|
Oligospermia, Male infertility |
ORPHA:3000 |
| Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly |
OMIM:212140 |
| Joubert Syndrome With Oculorenal Defect |
|
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Molar tooth sign on MRI,... |
ORPHA:2318 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... |
ORPHA:3092 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Inferior vermis hypoplasia, Hypoplasia of t... |
ORPHA:444072 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Joubert Syndrome 9 |
|
Molar tooth sign on MRI |
OMIM:612285 |
| Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Loss of Purkin... |
ORPHA:98755 |
| Arima Syndrome |
|
Occipital meningocele, Brainstem dysplasia, Agenesis of cerebellar vermis, Dilated fourth ventric... |
OMIM:243910 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:618652 |
| Arnold-Chiari Malformation Type Ii |
|
Meningocele, Partial agenesis of the corpus callosum, Abnormality of the medulla oblongata, Opist... |
ORPHA:1136 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Mulibrey Nanism |
|
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... |
ORPHA:85451 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... |
ORPHA:1457 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy, Impotence |
OMIM:105210 |
| Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Cardiom... |
ORPHA:465508 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Large for gestational age, Congenital ... |
OMIM:239850 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Anencephaly, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Polymicrogyria, Hydrocephalus |
OMIM:616546 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly |
OMIM:252920 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology, Abnormal hypothalamus morphology, Abnormality of the pituitary glan... |
ORPHA:314621 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly |
OMIM:256550 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Gangliocytoma |
|
Abnormal prolactin level, Abnormality of the pituitary gland, Abnormal brainstem morphology, Pitu... |
ORPHA:251937 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem morphology, Abnormal putamen morphology, Cerebral edema, Abnormal brainstem MR... |
ORPHA:88619 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Abnormal heart morphology, Double outlet right ventricle, Abnormal sperm ... |
ORPHA:244 |
| Coach Syndrome 1 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebellar vermis |
OMIM:216360 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus,... |
ORPHA:1908 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Ring Chromosome Y Syndrome |
|
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... |
ORPHA:261529 |
| Classic Galactosemia |
|
Hepatomegaly, Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary amenorrhea, Prematu... |
ORPHA:79239 |
| Sickle Cell Anemia |
|
Hepatomegaly, Cardiomegaly, Priapism, Splenomegaly |
OMIM:603903 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... |
ORPHA:439 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum |
ORPHA:79279 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality o... |
ORPHA:2720 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve pro... |
ORPHA:324410 |
| 47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Increased circulating gonadotropin lev... |
ORPHA:8 |
| Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism |
ORPHA:63260 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... |
OMIM:306955 |
| Orofaciodigital Syndrome Type 6 |
|
Hypothalamic hamartoma, Tremor, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aplasia/Hy... |
ORPHA:2754 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy |
OMIM:261740 |
| Joubert Syndrome 39 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619562 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Dysgenesis of the cerebellar vermis, Small pituitary gland, Molar tooth sign on MRI, Dilation of ... |
OMIM:619479 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:201475 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, S... |
ORPHA:1926 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Joubert Syndrome 5 |
|
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebe... |
OMIM:610188 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Cardiomegaly, Large for g... |
ORPHA:363705 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology, Encephalomalacia |
ORPHA:231160 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence |
OMIM:268800 |
| Joubert Syndrome 8 |
|
Molar tooth sign on MRI |
OMIM:612291 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Cardiomegaly, Overriding aorta |
OMIM:617022 |
| Posterior Meningocele |
|
Meningocele, Occipital meningocele, Chiari malformation, Neural tube defect, Hydrocephalus, Lipom... |
ORPHA:268810 |
| Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... |
ORPHA:1329 |
| Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Leigh Syndrome With Cardiomyopathy |
|
Neuronal loss in basal ganglia, Diffuse white matter abnormalities, Abnormal globus pallidus morp... |
ORPHA:70474 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Dandy-Walker malformation, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616300 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Azoospermia, Cardiomegaly, Pulmon... |
OMIM:602782 |
| Craniofaciofrontodigital Syndrome |
|
Abnormal heart morphology, Cardiomegaly |
OMIM:114620 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... |
OMIM:601214 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Enlarged kidney |
OMIM:608836 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Neonatal death, Cardiomegaly, Splenomegaly, Hepatosplenomegaly |
OMIM:608013 |
| Orofaciodigital Syndrome Xiv |
|
Dandy-Walker malformation, Holoprosencephaly, Simplified gyral pattern, Molar tooth sign on MRI, ... |
OMIM:615948 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defect |
ORPHA:79330 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Gonadotropin deficiency, Adrenocorticotropic hormone deficiency, Ce... |
ORPHA:293987 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Dila... |
ORPHA:434179 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology, Diffuse cerebellar atrophy, Cerebral cortical atrophy, Intention t... |
ORPHA:93256 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Disproportionate tall stature, Cardiomegaly, Tall stature |
ORPHA:2463 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Male infertility |
OMIM:244400 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy |
ORPHA:308552 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Iniencephaly |
|
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Lissencephaly, Spina... |
ORPHA:63259 |
| Truncus Arteriosus |
|
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... |
ORPHA:3384 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... |
OMIM:245600 |
| Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... |
ORPHA:980 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy |
ORPHA:228308 |
| Androgen Insensitivity Syndrome |
|
Male infertility |
ORPHA:754 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... |
ORPHA:1677 |
| Fanconi Anemia, Complementation Group A |
|
Abnormal heart morphology, Male infertility, Hypergonadotropic hypogonadism |
OMIM:227650 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly |
OMIM:618278 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Hepatomegaly, Hypogonadism, Hepatosplenomegaly, Male infertility |
ORPHA:85450 |
| Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252500 |
| Semilobar Holoprosencephaly |
|
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... |
ORPHA:93924 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... |
ORPHA:95430 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Cardiomegaly, S... |
ORPHA:581 |
| Aromatase Deficiency |
|
Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, Enlarge... |
ORPHA:91 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... |
ORPHA:99125 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... |
OMIM:300967 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Tall stature |
ORPHA:91387 |
| Greenberg Dysplasia |
|
Hepatomegaly, Neonatal death, Cardiomegaly, Stillbirth, Hepatosplenomegaly |
OMIM:215140 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Primary amenorrhea |
ORPHA:99429 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Enlarged kidney |
OMIM:130650 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Partial Androgen Insensitivity Syndrome |
|
Male sexual dysfunction, Male infertility, Primary amenorrhea, Azoospermia |
ORPHA:90797 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male hypogonadism, Male infertility, Primary amenorrhea, Irregular menstruation, Decreased fertility |
ORPHA:90793 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Posterior pituitary hypoplasia, Abnormal brainstem morphology, Microcephaly, Hypoplasia of the co... |
ORPHA:464311 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... |
ORPHA:75565 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy |
ORPHA:365 |
| Beckwith-Wiedemann Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Tall stature, Cardiomegaly, Large for gestational age,... |
ORPHA:116 |
| Schinzel-Giedion Syndrome |
|
Neural tube defect, Chiari type I malformation, Hypoplasia of the corpus callosum, Umbilical hern... |
ORPHA:798 |
| Cystic Fibrosis |
|
Cor pulmonale, Hepatomegaly, Hepatosplenomegaly, Male infertility |
OMIM:219700 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:51 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Irregular menstruation, Cardiomegaly, Splenomegaly |
OMIM:256040 |
| Williams Syndrome |
|
Hypertrophic cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal endocardi... |
ORPHA:904 |
| Bloom Syndrome |
|
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia |
ORPHA:125 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Azoospermia, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, ... |
ORPHA:251510 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Streak ovary, Azoospermia, Chordee, Male infertility |
ORPHA:1772 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
| Noonan Syndrome 1 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Hypogonadism, Atrial s... |
OMIM:163950 |
| Cystinosis, Nephropathic |
|
Hepatomegaly, Male hypogonadism, Male infertility, Splenomegaly |
OMIM:219800 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Aortic valve calcification... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Recurrent spontaneous abortion, Myocardial calcification, Pericardial effusion, Ventricular hyper... |
ORPHA:51608 |
