Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Melanocytic nevus, Sparse body hai... |
ORPHA:1008 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly |
OMIM:611808 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Thrombocytopenia |
OMIM:166990 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Edinburgh Malformation Syndrome |
|
Frontal hirsutism, Failure to thrive, Hydrocephalus, Jaundice |
OMIM:129850 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Fatigable weakness of skeletal muscles, Dilated cardiomyopathy, Right bundle branch block, Left v... |
ORPHA:206559 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Ataxia-Telangiectasia |
|
Lymphopenia, Hypopigmentation of hair, Diabetes mellitus, Telangiectasia of the skin, Abnormal te... |
ORPHA:100 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Right ventricular cardiomyopathy, Prolonged QRS complex, Su... |
OMIM:601214 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Fair hair, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Hydrocep... |
OMIM:269920 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CS... |
OMIM:610333 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi... |
ORPHA:563 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Griscelli Syndrome |
|
Encephalocele, Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal ey... |
ORPHA:381 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Hydrocephalus, Anemia, Dystonia, Thrombocytopenia |
OMIM:619302 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Impaired glucose tolerance, Long eyebrows, Atrioventricular block, Glucose intolerance, Bradycard... |
OMIM:614407 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, Hydrocephalus, Obesity, L... |
ORPHA:2183 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Heart block... |
ORPHA:398124 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... |
ORPHA:263297 |
Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus |
OMIM:300884 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hydrocephalus, Small nail |
OMIM:619470 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... |
OMIM:181350 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Failure to thrive |
ORPHA:250994 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Tremor, Premature graying of hair, Hypop... |
ORPHA:33445 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hepatomegaly, Ventriculomegaly, Failure to thrive in infancy... |
ORPHA:858 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... |
ORPHA:75566 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Myotonic Dystrophy 2 |
|
Tachycardia, Frontal balding, Premature ventricular contraction, Right bundle branch block, Oligo... |
OMIM:602668 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Alopecia of scalp, Toenail dysplasia |
ORPHA:1532 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Congestive heart failur... |
OMIM:235200 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Generalized dystonia, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Fai... |
OMIM:618235 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Lobar holoprosencephaly, Lat... |
OMIM:609637 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Congestive heart failure, Bradycardia, Failure to thrive, Hepatic ste... |
OMIM:619048 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Red hair, Failure to thrive, Hypop... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Red hair, Failure to thrive, Hypop... |
ORPHA:71526 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Hydrocephalus, Obesity, Cholestasis, Gluc... |
OMIM:615630 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Impaired glucose tolerance, Left bundle branch block, Glucose intolerance, Abnormality of the liv... |
OMIM:610131 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Increased CSF lactate, Bradycardia, Dystonia |
OMIM:616277 |
Muscle Filaminopathy |
|
Right bundle branch block, Cardiomyopathy, Left ventricular diastolic dysfunction |
ORPHA:171445 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Generalized dystonia, Congestive heart failure, Increased CSF lactate, ... |
ORPHA:70472 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrio... |
OMIM:115197 |
Temple Syndrome |
|
Few cafe-au-lait spots, Small for gestational age, Cryptorchidism, Hydrocephalus, Obesity, Recurr... |
ORPHA:254516 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hyperglycorrh... |
ORPHA:90065 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Cryptorchidism, Hydrocep... |
ORPHA:2701 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block |
OMIM:300695 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive |
ORPHA:26 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Obesity, Decreased body weight, Ventric... |
ORPHA:589821 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Increased CSF lysine concent... |
OMIM:616034 |
Obesity And Hypopigmentation |
|
Red hair, Hyperinsulinemia, Hepatic steatosis, Obesity |
OMIM:620195 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, H... |
ORPHA:137675 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Hydrocep... |
ORPHA:163596 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Failure to thrive, Hepatomegaly, Right ventricula... |
ORPHA:1329 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Obesity |
ORPHA:141333 |
Stiff-Person Syndrome |
|
Tachycardia, Exaggerated startle response, Diabetes mellitus, Opisthotonus, Hypertension, Anemia,... |
OMIM:184850 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Jaundice, L... |
ORPHA:79477 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Thrombocytopenia, Cryptorchidism, Hydrocephalus, In... |
OMIM:617053 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Synophrys, Small for gestational age, Hydrocephalus, Broad eyebrow |
OMIM:618302 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia, Ventriculomegaly, Dystonia |
OMIM:616299 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Generalized hyperpigmentation, Myocardia... |
ORPHA:3452 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of secondary sexual hair, Abnormality of the testis size |
ORPHA:649929 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Prem... |
OMIM:212138 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Acute pancreatitis, Cardiac conduction abnormality, Tremor, Con... |
ORPHA:466677 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Hirsutism, Hyperglycemia, Ventriculomegaly |
OMIM:175700 |
Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys, Hydrocephalus, Low posterior hairline, Failure to thrive, Generalize... |
ORPHA:1895 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... |
OMIM:115195 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Abnormal hair morphology,... |
ORPHA:894 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Postural tremor, Hypoglycemia, D... |
ORPHA:79239 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Bradycardia, Dystonia, Hypertrophic cardiomyopathy, Fail... |
OMIM:614702 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Overweight, Cryptorchidism, Hydr... |
OMIM:616222 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity, Hypopigmentation of the skin, I... |
ORPHA:177910 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Hydrocephalus |
OMIM:300886 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Lymphadenopathy, G... |
ORPHA:2221 |
Diencephalic Syndrome |
|
Hydrocephalus, Cachexia, Decreased body weight |
ORPHA:1672 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Histiocytosis, Diabetes mellitus, Microcytic anemia, Hydro... |
ORPHA:168569 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Cryptorchidism, Decreased fertility, Melanocytic nevu... |
ORPHA:500 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block |
OMIM:616479 |
Cln3 Disease |
|
Vacuolated lymphocytes, Pigmentary retinopathy, T-wave inversion, Bradycardia, Hirsutism |
ORPHA:228346 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Hypopigmentation of the ski... |
OMIM:614072 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Hydrocephalus, Hypertension, Portal fibrosis, Hepatic fibrosis |
OMIM:619111 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Postural tremor, Hand tremor |
ORPHA:99947 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Long eyelashes, Ventriculomegaly |
OMIM:618577 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ... |
OMIM:214500 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Splenomegaly, Insulin resi... |
OMIM:613327 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Cryptorchidism, Blue irides, Obesity, Red hair, Fair hair |
OMIM:614613 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Failure to thrive, Tricuspid regurgitation, Slow-growing hair, Highly arched eyebrow,... |
OMIM:617506 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Premature ovarian insufficiency, Diabetes mellitus, Cardiomyopathy, Hypogonadism, Bradycardia, Ar... |
OMIM:609286 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Hydrocephalus, Long eyelashes, Horizontal eyebrow, Fai... |
OMIM:609757 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Alopecia, Portal hypertension, Congenital hepatic fib... |
ORPHA:974 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hypermelanotic macule, Hydrocephalus, Cerebral ischemia, Arrhythmia, ... |
ORPHA:60040 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Hydrocephalus |
ORPHA:83473 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive, Hydrocephalus |
OMIM:602361 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block |
ORPHA:254361 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
Glutaric Acidemia I |
|
Hepatomegaly, Hypoglycemia, Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... |
OMIM:231670 |
Krabbe Disease |
|
Hydrocephalus, Failure to thrive, Increased CSF protein concentration, Autoimmune thrombocytopenia |
OMIM:245200 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Internal hemo... |
ORPHA:99827 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Alopecia, Angina pectoris, Telang... |
ORPHA:93672 |
B4Galt1-Cdg |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca... |
ORPHA:330001 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Hydro... |
OMIM:261740 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... |
ORPHA:439 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Hydrocephalus, Hepatosplenomegaly, Telangiectasia, Generalized hypert... |
ORPHA:93400 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Bradycardia... |
OMIM:601005 |
Nephronophthisis 18 |
|
Hypertension, Hydrocephalus, Portal fibrosis, Cholestasis |
OMIM:615862 |
Pearson Syndrome |
|
Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomegaly, Cardiomy... |
ORPHA:699 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Low anterior hairline, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Tenorio Syndrome |
|
Thick eyebrow, Hypoglycemia, Raynaud phenomenon, Hydrocephalus, Syncope, Hypoinsulinemia, Ventric... |
OMIM:616260 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Cholestasis, Cirrhosis... |
OMIM:614576 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Increased CSF lactate, Opisthotonus, Bradycardia, Pulmonary arterial hypertension, Failure to thr... |
OMIM:619272 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block, Hydrocephalus, Hypertrichosis |
OMIM:618590 |
Alexander Disease Type I |
|
Hydrocephalus, Failure to thrive, Cachexia |
ORPHA:363717 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Hydrocephalus, Hypertension, Abnormality of the liver, Increased... |
ORPHA:2169 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Insulin resistance, Pulmonary insufficiency, Intention tremor |
OMIM:619322 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Hypoplastic ... |
OMIM:185070 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Melanocytic nevus |
OMIM:612247 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Right bundle branch block, Hyperte... |
OMIM:614008 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Ventriculomegaly, Generalized hyperpigmentation... |
ORPHA:3322 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Dystonia |
OMIM:614654 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Hydrocephalus |
OMIM:615599 |
Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropeni... |
ORPHA:391673 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Hydrocephalus, Low anterior hairline, Lateral ventricle dilatation, Small nail |
OMIM:614219 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Obesity |
ORPHA:171839 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Bradycardia |
OMIM:610015 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Abnormal hair morphology, Macroorchidism, Male infertility, Oligozoospermia |
ORPHA:3000 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation |
OMIM:619576 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Obesity |
OMIM:616521 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation, Numerous congenital melanocyt... |
OMIM:249400 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation |
ORPHA:411515 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Hydrocephalus, Polysplenia, Abnormal sperm motili... |
ORPHA:244 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Hepatomegaly, Hypoglycemia, Supernumerary nipple, Spl... |
ORPHA:373 |
Dextrocardia |
|
Abnormal EKG, Abnormality of the spleen, Hydrocephalus, Abnormality of abdominal situs, T-wave in... |
ORPHA:1666 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia |
OMIM:608800 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia, Opisthotonus |
OMIM:619814 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity |
OMIM:601794 |
Optic Pathway Glioma |
|
Fatigable weakness, Hydrocephalus |
ORPHA:2086 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Leg dystonia, Increased CSF lactate, Lateral ventricle dilatation, Bradycardia, N... |
ORPHA:565624 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus |
ORPHA:397951 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Thick eyebrow, Hydrocephalus, Colpocephaly, Long eyelashes, Failur... |
OMIM:619833 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Cafe-au-lait spot, Hypopigmentation of the ... |
OMIM:618541 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly, Acute leukemia |
ORPHA:2770 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc... |
ORPHA:91348 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Hydrocephalus, Coarse hair, Thic... |
ORPHA:585 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ventriculomegaly, Cryptorchidism, Synophrys, Hydrocephalus, Opisthotonus, Choreoathetosis, Hypopi... |
OMIM:614969 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Generalized hyperpigmentation, Slow-growing hair, Failure to thrive in infancy, Abn... |
ORPHA:1340 |
Muenke Syndrome |
|
Hydrocephalus, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Occipital encephalocele, Highly arched eyebrow, Portal hypertension, Tremor, Congen... |
ORPHA:1454 |
Emanuel Syndrome |
|
Torticollis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Aortic valve ste... |
OMIM:609029 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hydrocephalus |
ORPHA:2181 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorr... |
ORPHA:398079 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Abnormality of retinal pigmentation, Congestive heart failure, Splenomegaly, Hydroc... |
OMIM:309900 |
Bresek Syndrome |
|
Cryptorchidism, Alopecia, Hydrocephalus, Decreased testicular size |
ORPHA:85284 |
Sheehan Syndrome |
|
Dyspareunia, Orthostatic hypotension, Decreased female libido, Hypoglycemia, Sparse axillary hair... |
ORPHA:91355 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Failure to thrive, Highly arched eyebrow, Retinal telangiectasia |
OMIM:620157 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Prolonged neonatal jaundice |
ORPHA:95717 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Low posterior hairline, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker mal... |
OMIM:220210 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Mottled pigmentation, Bradycardia, Large for gestational age |
ORPHA:226313 |
Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... |
ORPHA:1880 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Bradycardia, Failure to thriv... |
OMIM:610768 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Hogue-Janssen Syndrome 2 |
|
Abnormal hair whorl, Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Ventriculomegaly, Abnormal fingernail morphology, Cryptorchidism, Hydrocephalus, Hypopi... |
ORPHA:1647 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypoplastic toenails, Cryptorchidism, Hydrocephalus, Hypertrophic cardiomyopathy, Failure to thri... |
OMIM:612938 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism, Melanocytic nevus |
ORPHA:377 |
Emanuel Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypogonadism, Infertility, Pulmonic stenosis, Ao... |
ORPHA:96170 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Ventriculomegaly, Cerebral hemorrhage, Lateral ventricle dilatation, Bradycardia, T... |
OMIM:617397 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Thick hair, Congestive... |
ORPHA:505248 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Abnormal fingernail morphology, Hydrocephalus, Meningocele, Anencephaly, Spinal dy... |
ORPHA:1908 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Crouzon Syndrome |
|
Hydrocephalus, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:207 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Hydrocephalus, Low... |
OMIM:115150 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:259700 |
Leopard Syndrome 1 |
|
Bundle branch block, Delayed menarche, Cryptorchidism, Spina bifida occulta, Hypoplasia of the ov... |
OMIM:151100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Alopecia totalis, Normochromic anemia, B... |
OMIM:618775 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormality of skin pigmentation, Hydrocephalus, Obesity |
ORPHA:2180 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Hydrocephalus, Irregular hyperpigm... |
ORPHA:2969 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly |
ORPHA:370959 |
Tetanus |
|
Tachycardia, Tremor, Opisthotonus, Hypertension, Bradycardia |
ORPHA:3299 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Hypoglycemia, Ventriculomegaly |
OMIM:616355 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Hydrocephalus, B... |
OMIM:607361 |
Triploidy |
|
Hepatomegaly, Cryptorchidism, Abnormality of the pancreas, Abnormality of the gallbladder, Hydroc... |
ORPHA:3376 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational... |
ORPHA:84064 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Dystonia, Tremor, Subdural hemorrhage, Retinal hemorrhage, Athetosis... |
ORPHA:25 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
Holoprosencephaly |
|
Encephalocele, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Highly arched eyebr... |
ORPHA:2162 |
Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Splenomegaly, Hydrocephalus, Enlarged tonsils, Hepatosplenome... |
OMIM:607014 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hydrocephalus, White hair, Ocular albinism, Hypochromic anemia, Gener... |
ORPHA:2720 |
Alexander Disease |
|
Diabetes mellitus, Sudden cardiac death, Tremor, Aqueductal stenosis, Hydrocephalus, Hypertension... |
ORPHA:58 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:176270 |
Sandhoff Disease, Infantile Form |
|
Mitral regurgitation, Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Synophrys, Noncommunicating hydrocephalus, Low posterior hairline, Thin eyebrow, Sparse hair |
OMIM:619320 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Heart block, Hydrocephalus, Hepatic calcification, Cardiomyopathy, Arrhythmia, Hepa... |
ORPHA:228308 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Hepatosplenomegaly, Anemia, Thrombocyt... |
OMIM:259710 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sparse scalp hair, Hypoplastic toenails, Sparse eyebrow, Hydrocephalus, Aortic valve stenosis, Da... |
ORPHA:459061 |
Trisomy 17P |
|
Hydrocephalus, High anterior hairline, Low posterior hairline, Aortic valve stenosis, Generalized... |
ORPHA:261290 |
Hurler Syndrome |
|
Hepatomegaly, Angina pectoris, Abnormality of the tonsils, Splenomegaly, Hydrocephalus, Abnormali... |
ORPHA:93473 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Chédiak-Higashi Syndrome |
|
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... |
ORPHA:167 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Ventriculomegaly, Thick hair, Adenoiditis, Splenomegaly, Synophrys, Recurrent tonsi... |
ORPHA:581 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Small for gestational age, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:90051 |
Joubert Syndrome 14 |
|
Encephalocele, Highly arched eyebrow, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypert... |
OMIM:614424 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Hepatosplenomegaly, Impotence |
OMIM:268800 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm |
OMIM:613807 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia |
ORPHA:40366 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Iron deficiency anemia, Abnormality of the liver, Supraventricular tachy... |
ORPHA:97214 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy |
OMIM:207950 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Male infertility, Primary testicular failure, Congesti... |
ORPHA:85450 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Telangiectasia, Pigmentary retinopathy, Frontal upsweep of hair, Dandy-Walker malf... |
OMIM:612582 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Small for gestational age |
OMIM:613330 |
Squalene Synthase Deficiency |
|
Bilateral cryptorchidism, Failure to thrive in infancy, Abnormality of hair pigmentation |
OMIM:618156 |
D-Glyceric Aciduria |
|
Failure to thrive, Hypoglycemia, Bradycardia, Opisthotonus |
OMIM:220120 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... |
ORPHA:261529 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia, Vaginal hydrocele |
ORPHA:2119 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Splenomegaly, Hypopigmented ... |
ORPHA:163746 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hy... |
OMIM:616084 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Medial flaring of the eyebrow, Tricuspid regurgitation, Sparse eyel... |
OMIM:612863 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Ventriculomegaly, Thick eyebrow, Hydrocephalus, Long eyelashes, Dan... |
OMIM:617281 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
Mucopolysaccharidosis Type 1 |
|
Abnormality of the tonsils, Congestive heart failure, Splenomegaly, Hydrocephalus, Low anterior h... |
ORPHA:579 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Hypogonadotropic hypogona... |
ORPHA:98754 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Hydrocephalus, Abnormality of the hairline, Decreased body weight |
OMIM:614886 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hydrocephalus, Anemia |
ORPHA:53 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Tetrasomy 5P |
|
Congestive heart failure, Hydrocephalus, Depigmentation/hyperpigmentation of skin, Heart murmur, ... |
ORPHA:3309 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Hirsutism, Cardiomyopathy, Coarse hair, Thick eyebrow |
OMIM:253220 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Congenital Myopathy 22A, Classic |
|
Synophrys, Tricuspid regurgitation, Bradycardia, Normal pressure hydrocephalus |
OMIM:620351 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Hydrocephalus, Cardiomyopathy, Mitral regurg... |
OMIM:253200 |
Large Congenital Melanocytic Nevus |
|
Congenital giant melanocytic nevus, Hydrocephalus, Hypopigmented skin patches, Abnormality of ski... |
ORPHA:626 |
Diabetic Embryopathy |
|
Abnormality of the pancreas, Hydrocephalus, Spinal dysraphism, Cryptorchidism |
ORPHA:1926 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Hypogonadotropic hypogona... |
ORPHA:98793 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... |
OMIM:203300 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Diabetes mellitus, Cryptorchidism, Primary amenorrhea, Hypertension, Ab... |
ORPHA:739 |
Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Abnormality of the abdominal organs, Hydrocephalus, Generalized hypertr... |
ORPHA:2409 |
3C Syndrome |
|
Ventriculomegaly, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformat... |
ORPHA:7 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... |
ORPHA:125 |
Classic Phenylketonuria |
|
Tremor, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Myelomeningocele, Hypopigmented... |
ORPHA:3440 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Hypogonadotropic hypogona... |
ORPHA:177904 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Monosomy 18Q |
|
Left-to-right shunt, Bilateral cryptorchidism, Congestive heart failure, Hydrocephalus, Low anter... |
ORPHA:1600 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Cryptorchidism, Increased body weight, Primary amenorrhea, Abdominal ob... |
ORPHA:398069 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Cryptorchidism, Abnormality of the pancreas, Hydrocephalus, Melanocytic nevus, Hypertension, Abno... |
ORPHA:1555 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Hypogonadotropic hypogona... |
ORPHA:177901 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Ventriculomegaly, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Aplastic/hypoplastic toena... |
ORPHA:1812 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Coccidioidomycosis |
|
Pericarditis, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Vasculitis, P... |
ORPHA:228123 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Cockayne Syndrome A |
|
Hepatomegaly, Dry hair, Tremor, Retinal pigment epithelial mottling, Splenomegaly, Cryptorchidism... |
OMIM:216400 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hydrocephalus, Hepatic calcification, Cardiomyopathy, Arrhythmia, Hypoketotic hypog... |
ORPHA:157 |
Aromatase Deficiency |
|
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Fg Syndrome Type 1 |
|
Cryptorchidism, Hydrocephalus, Frontal upsweep of hair, Pulmonary arterial hypertension, Slender ... |
ORPHA:93932 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Dandy-Walker mal... |
OMIM:611134 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Abnormality of the liver, Hydrocephalus |
ORPHA:1834 |
Trisomy 1Q |
|
Hypoplastic toenails, Cryptorchidism, Hydrocephalus, Ventriculomegaly, Aplasia/Hypoplasia of the ... |
ORPHA:261344 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Mitral regurgitation, Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Hydrocephalus, Leukemia |
OMIM:619951 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hypoglycemic seizures, Obesity, Cholestasis |
OMIM:609734 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Hydrocephalus, Dilated cardiomyopathy, Holoprosencep... |
OMIM:253800 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Thrombocytopenia, Leu... |
OMIM:259720 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Dystonia, Hirsutism |
ORPHA:79255 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Epista... |
ORPHA:79430 |
Familial Thyroid Dyshormonogenesis |
|
Bradycardia, Prolonged neonatal jaundice |
ORPHA:95716 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke, Neonatal hypoglycemia |
ORPHA:447788 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Neonatal hypoglycemia, Tremor, Jaundice, Increased CSF lactate, Bradycardia, Neutropeni... |
OMIM:617248 |
Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Hypergonadotropic hypogonadism, Aplastic anemia, Hydrocephalus, Hypogonadism, T... |
OMIM:300514 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Synophrys, Hydrocephalus, Colpocephaly, Ventriculomegaly |
OMIM:620156 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Cryptorchidism, Dilated third ventricle, Hydrocephalus, Hypogonadism, Failure to thri... |
ORPHA:500055 |
Cockayne Syndrome B |
|
Hepatomegaly, Dry hair, Small for gestational age, Tremor, Abnormal hair morphology, Splenomegaly... |
OMIM:133540 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
Joubert Syndrome With Renal Defect |
|
Tremor, Encephalocele, Hydrocephalus, Highly arched eyebrow |
ORPHA:220497 |
Marshall-Smith Syndrome |
|
Ventriculomegaly, Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, ... |
OMIM:602535 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction |
ORPHA:268 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hyperconvex nail, Highly arched eyebrow, Hydrocephalus, Athetosis, Small nail |
OMIM:239300 |
Joubert Syndrome |
|
Tremor, Encephalocele, Hydrocephalus, Highly arched eyebrow |
ORPHA:475 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen, Pulmonic stenosis |
OMIM:601186 |
Hyperekplexia 3 |
|
Exaggerated startle response, Syncope |
OMIM:614618 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Communicating hydrocephalus, Male infertility |
OMIM:244400 |
Carney Complex, Type 1 |
|
Congestive heart failure, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesion... |
OMIM:160980 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Abdominal situs ambiguus, Immotile sperm |
OMIM:614874 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Ventriculomegaly, Hypoglycemia, Thin nail, Concave nail, Hydrocephalu... |
OMIM:218040 |
Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Highly arched eyebrow, Retinal telangiectasia, Hydrocephalus, Obesity |
OMIM:620155 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Mitral stenosis |
OMIM:231005 |
Pettigrew Syndrome |
|
Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Choreoathetosis, Dandy-Walker malformation |
OMIM:304340 |
Dubowitz Syndrome |
|
Sparse scalp hair, Abnormal fingernail morphology, Abnormality of neutrophils, Hypoplastic toenai... |
ORPHA:235 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Tremor, Obesity, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Hepatosplenomegaly, Dystonia, Laryngeal dystonia, Ventricul... |
ORPHA:845 |
Desmosterolosis |
|
Splenomegaly, Hydrocephalus, Failure to thrive, Ventriculomegaly |
ORPHA:35107 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Thrombocytopenia, Crypto... |
OMIM:227646 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Hydrocephalus, Cholestasis, Weight loss, Portal fibrosis, Hepat... |
OMIM:619377 |
Joubert Syndrome With Ocular Defect |
|
Tremor, Encephalocele, Hydrocephalus, Highly arched eyebrow |
ORPHA:220493 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Degcags Syndrome |
|
Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, Le... |
OMIM:619488 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Small for gestational age, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Le... |
OMIM:257300 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Congestive heart failure, Hydrocephalus, Irregular menstruation, Pulmonary arterial hypertension |
OMIM:616482 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... |
ORPHA:97339 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Myocarditis, Fulminant hepatitis, Leukocytosis, Subconjunctival hemorrhage... |
ORPHA:319213 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Hirsutism, Dystonia, Failure to thrive, Ventriculomegaly |
ORPHA:521426 |
Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly |
ORPHA:2189 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Hirsutism |
ORPHA:1865 |
Vici Syndrome |
|
Lymphopenia, Hypopigmentation of hair, Albinism, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:242840 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Craniopharyngioma |
|
Hypogonadotropic hypogonadism, Myocardial infarction, Hydrocephalus, Obesity, Hypogonadism, Cereb... |
ORPHA:54595 |
1Q44 Microdeletion Syndrome |
|
Synophrys, Hydrocephalus, Ventriculomegaly |
ORPHA:238769 |
Encephalitis Lethargica |
|
Tremor, Increased CSF protein concentration, Bradycardia |
ORPHA:83600 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive |
OMIM:618201 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Hypoplastic nipples, Spina bifida occulta |
ORPHA:2437 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Abnormal fingernail morphology, Mitral stenosis, Splenomegaly, Synophrys, Hydroceph... |
ORPHA:955 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypoglycemia, Pulmonary embolism, Megaloblastic anemia, Jaundice, Dilated cardiomyopathy, Subdura... |
ORPHA:79282 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Hydrocephalus |
ORPHA:2075 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Ventriculomegaly, Spina bifida, Cryptorchidism, Hydro... |
ORPHA:84 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Oculogyric crisis, Pulmonary embolism, Tremor, Thrombocytopenia, Leukocytosis, Hyper... |
ORPHA:94093 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Linear hyperpigmentation, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation |
ORPHA:411511 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Hydrocephalus, Lateral ventricular asymmetry, Melanocytic nevus |
OMIM:616914 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Sparse axillary hair, Testicular neoplasm, Sparse pubic hair, Bilateral cryptor... |
ORPHA:99429 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Long eyelashes, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Tremor, Hydrocephalus, Pigmentary retinopathy, Neutropenia, Failure to thri... |
OMIM:277400 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Exaggerated startle response, Failure to thrive, Tremor, Dilated third ... |
OMIM:615574 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Long eyelashes, Ventriculomegaly |
OMIM:617301 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormality of hair texture, Tremor, Splenomegaly, Hydrocephalus, Lymphadenopathy, ... |
ORPHA:667 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida, Facial hirsutism |
ORPHA:2839 |
Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, Highly arched eyebrow, Synophrys, Hydrocephalus, Low anterior hairline, Hydrocele t... |
OMIM:613776 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cryptorchidism, Ocular albinism, Athetosis, Dandy-Walker malformation, ... |
ORPHA:2719 |
Koolen-De Vries Syndrome |
|
Cryptorchidism, Hypopigmentation of hair, Ventriculomegaly, Abnormality of hair texture |
ORPHA:96169 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Cryptorchidism, Hydrocephalus, Blue irides, Irregular menstruation, Me... |
OMIM:101800 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617822 |
Walker-Warburg Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:899 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, High-output congestive heart failure, Congestive heart failure, Abnormality of the lym... |
ORPHA:137667 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Failure to thrive, Ventriculomegaly, Hirsutism |
OMIM:617527 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Ventriculomegaly, Cachexia, Abnormality of the sp... |
ORPHA:2072 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Failure to thrive |
OMIM:612940 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus, Telangiectasia of the skin, Thick eyebrow, Hypoglycemia |
OMIM:616007 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anencephaly, Cystic liver disease, Bi... |
OMIM:612284 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Coarse hair, Meningocele, Hydrocephalus |
OMIM:130720 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Hydrocephalus, Pigmentary retinopathy, Colpocephaly, Chordee, His... |
OMIM:309801 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Anencephaly, Periportal fibrosis, Holoprosencephaly, H... |
OMIM:269860 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Hirsutism |
OMIM:224400 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Synophrys, Abnormality of skin pigmentation, Decreased body weight, Hepatic steatosis, Hypopigmen... |
OMIM:619475 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Polysplenia |
ORPHA:1335 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Thromb... |
OMIM:227650 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Highly arched eyebrow |
ORPHA:2318 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Pigmentary retinopathy, Lateral ventricle dilatation, Dilated th... |
OMIM:613154 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
Distal Triplication 15Q |
|
Hydrocele testis, Hydrocephalus, Dandy-Walker malformation, Large for gestational age |
ORPHA:314588 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly |
ORPHA:77298 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
7Q11.23 Microduplication Syndrome |
|
Sparse anterior scalp hair, Cryptorchidism, Hydrocephalus, Obesity, Long eyelashes, Horizontal ey... |
ORPHA:96121 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Hypertension, Small nail, Ventriculomegaly, Hypoplastic fingernail |
OMIM:123790 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Bohring-Opitz Syndrome |
|
Ventriculomegaly, Synophrys, Bradycardia, Severe failure to thrive, Cholelithiasis, Annular pancr... |
ORPHA:97297 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Cystinosis, Nephropathic |
|
Male infertility, Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in... |
OMIM:219800 |
Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Hypertension, Hepatic fibr... |
OMIM:311200 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Cryptorchidism, Exaggerated startle response |
OMIM:620327 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Ventriculomegaly, Tremor, Thrombocytopenia, Splenomegaly, Hydrocephal... |
ORPHA:355 |
Meckel Syndrome |
|
Accessory spleen, Encephalocele, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Panc... |
ORPHA:564 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia, Weight loss |
ORPHA:221098 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Hypoplastic toenails, Asplenia, Aqueductal stenosis, Myelomeningocele, Biliary atre... |
OMIM:306955 |
Marburg Hemorrhagic Fever |
|
Shock, Reticulocytosis, Tachycardia, Pericarditis, Lymphopenia, Hypoglycemia, Orchitis, Pancreati... |
ORPHA:99826 |
Achondroplasia |
|
Hydrocephalus, Obesity |
ORPHA:15 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Failure to thrive |
OMIM:616881 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Pseudoaminopterin Syndrome |
|
Sparse scalp hair, Highly arched eyebrow, Asplenia, Cryptorchidism, Hydrocephalus, Fatigable weak... |
ORPHA:221120 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Fair hair, Slender build, Small for gestational age, Testicular neoplasm, Spina bifida,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Fair hair, Slender build, Small for gestational age, Testicular neoplasm, Spina bifida,... |
ORPHA:363958 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Jacobsen Syndrome |
|
Abnormal eyelash morphology, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Annular pancreas, ... |
OMIM:147791 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Cryptorchidism, Synophrys, Hydrocephalus, Low anterior hairline, High anteri... |
OMIM:619512 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... |
ORPHA:2356 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Congestive heart failure, Right bundle branch block, Hypertrophic cardi... |
OMIM:617403 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Hydrocephalus, Abnormality of the lymphatic system, Lymphadenopathy,... |
ORPHA:538 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Opitz-Kaveggia Syndrome |
|
Cryptorchidism, Hydrocephalus, Fine hair, Frontal upsweep of hair, Sparse hair |
OMIM:305450 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the tonsils, Spina bifida, Thrombocytopenia, Splenome... |
ORPHA:567 |
Aymé-Gripp Syndrome |
|
Sparse scalp hair, Pericarditis, Cryptorchidism, Hydrocephalus, Long eyelashes, Breast hypoplasia... |
ORPHA:1272 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Tricuspid regurgitation, Abnormal testis morphology, Abnorma... |
ORPHA:2556 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thrombocytopenia, Cryptorchidism, Hydrocephalus, Heart murmur, Intracranial h... |
ORPHA:163979 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Normal pressure hydrocephalus, Lateral ventricle dilatation, Dystonia |
ORPHA:300570 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus |
OMIM:601499 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Apert Syndrome |
|
Hypertension, Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Da... |
ORPHA:314585 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Crypt... |
ORPHA:636 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Failure to thrive |
OMIM:608091 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, Malformati... |
OMIM:249000 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity, Lateral ventricle dilatation, S... |
ORPHA:177907 |
Trisomy 8P |
|
Cryptorchidism, Hydrocephalus, Heart murmur, Low posterior hairline, Aplasia/Hypoplasia of the ga... |
ORPHA:264450 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Retinal hemorrhage, Hypertension, Blotching pigmentation of the skin, Bradycardia |
OMIM:614653 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Lateral ventricle dilatation, Anemia |
OMIM:612301 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Failure to thrive |
OMIM:617864 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Knobloch Syndrome |
|
Abnormal hair morphology, Lymphangioma, Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Medulloblastoma |
|
Cerebellar hemorrhage, Hydrocephalus, Intention tremor |
ORPHA:616 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Splenomegaly, Cryptorchidism, Hydrocephalus, Hypertension, Cholestatic liver diseas... |
OMIM:270400 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Failure to thrive, Overweight, Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Dilated... |
OMIM:619575 |
Icf Syndrome |
|
Anemia, Lymphopenia, Communicating hydrocephalus, Abnormality of neutrophils |
ORPHA:2268 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Failure to thrive, Tricuspid regurgitation, Absent nipple, Small for gestation... |
OMIM:612289 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus |
OMIM:613686 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus, Thick eyebrow, Low posterior hairline |
OMIM:245600 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... |
ORPHA:90797 |
Hajdu-Cheney Syndrome |
|
Short nail, Cryptorchidism, Synophrys, Hydrocephalus, Hirsutism, Long eyelashes, Failure to thriv... |
OMIM:102500 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Endocrine-Cerebroosteodysplasia |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
Cryptococcosis |
|
Lymphoid leukemia, Mediastinal lymphadenopathy, Peritonitis, Hydrocephalus, Cirrhosis, Prostatitis |
ORPHA:1546 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Spontaneous hemolytic crises, Jaundice, Hepatosplenomegaly, Stomatoc... |
ORPHA:168577 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation, Pulmonic stenosis |
ORPHA:90354 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:3301 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Failure to thrive, Ventriculomegaly |
ORPHA:395 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Low anterior hairline, Facial hirsutism |
OMIM:260660 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Bilateral cryptorchidism, Right bundle branch bloc... |
OMIM:617402 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Failure to thrive, Bradycardia, Prolonged neonatal jaundice |
ORPHA:90674 |
Stromme Syndrome |
|
Accessory spleen, Hydrocephalus |
OMIM:243605 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Failure to thrive, Small for gesta... |
OMIM:264090 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Cryptorchidism, Hydrocephalus, Decreased fertility, Primary amenorrhea, Oligozoospermia, Hyperten... |
ORPHA:95699 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Leukocytosis, Hydrocephalus, Abdominal obesity, Hypoplasia of the ovary, Generalized hy... |
OMIM:619321 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Hydrocephalus, Heterochromia iridis, Pulmonary embolism |
ORPHA:3205 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Spotty hypopigmentation, Aortic valve stenosis, Failure to thrive,... |
ORPHA:401973 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Spotty hypopigmentation, Aortic valve stenosis, Failure to thrive,... |
OMIM:300960 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Kabuki Syndrome |
|
Highly arched eyebrow, Cryptorchidism, Hydrocephalus, Obesity, Long eyelashes, Failure to thrive,... |
ORPHA:2322 |
Ciliary Dyskinesia, Primary, 43 |
|
Abdominal situs inversus, Noncommunicating hydrocephalus |
OMIM:618699 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly, Splenic cyst |
OMIM:618188 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Numerous pigmented freckles, Hydrocephalus, Cachexia |
ORPHA:220295 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Hypoglycemia, Intracranial hemorrhage, Pro... |
ORPHA:565 |
Neurofibromatosis, Type I |
|
Inguinal freckling, Spina bifida, Aqueductal stenosis, Axillary freckling, Hydrocephalus, Hyperte... |
OMIM:162200 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Dandy-Walker ma... |
OMIM:605627 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, D... |
OMIM:236670 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Cryptorchidism, Hydroc... |
OMIM:305600 |
Neurooculorenal Syndrome |
|
Highly arched eyebrow, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Recurrent hypoglycemia... |
OMIM:620305 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Hydrocephalus, Failure to thrive |
ORPHA:250989 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Mitral regurgitation, Failure to thrive, Ventriculom... |
ORPHA:2462 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Communicating hydrocephalus, Pancytopenia, Highly arched eyebrow, Hepatospl... |
ORPHA:309282 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Male infertility, Tachycardia, Streak ovary, Unilateral cryptorchidism, Bi... |
ORPHA:1772 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Hydrocephalus, Fine hair, Hy... |
OMIM:210710 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Lymphopenia, Hydrocephalus |
ORPHA:2306 |
Desmosterolosis |
|
Hydrocephalus, Failure to thrive, Ventriculomegaly |
OMIM:602398 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:182212 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Myelomeningocele, Failure to thrive, Hydrocephalus |
ORPHA:90652 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Cafe-au-lait spot, Bone marrow hypocellularity, Anemia |
OMIM:614083 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Sparse scalp hair, Epistaxis, Highly arched eyebrow, Sparse eyebrow,... |
OMIM:619841 |
Apert Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:101200 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia, Prolonged neonatal jaundice |
ORPHA:90673 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Enl... |
ORPHA:580 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Hepatic steatosis, Hypogonadotropic hypogonadism, Action tremor, Tremor, Crypt... |
ORPHA:3455 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Hydrocephalus |
OMIM:618162 |
Meningioma |
|
Hypogonadotropic hypogonadism, Cerebral hemorrhage, Hydrocephalus, Obesity, Impotence, Syncope, A... |
ORPHA:2495 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Abdominal situs inversus |
OMIM:619607 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Raynaud phenomenon, Pilomatrixoma, Jaundice, Cryptorchidism, Bi... |
ORPHA:3310 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Synophrys, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, O... |
OMIM:610828 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Hydrocephalus |
ORPHA:536467 |
Proximal Spinal Muscular Atrophy |
|
Bradycardia |
ORPHA:70 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Hypogonadotropic hypogonadism, Overweight, Bradycardia, Prolonged neonatal jaundice |
ORPHA:226307 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly, Tricuspid... |
OMIM:619534 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Ventriculomegaly, Large for gestational age |
ORPHA:77301 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Failure to thrive, Paronychia, Dilated cardiomyopathy, Bradycardia, Nail dystrophy, Ano... |
ORPHA:79404 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Small for gestational age, Highly arched eyebrow, Cryptorchidism, Hydrocephalus... |
OMIM:194190 |
Fraser Syndrome 1 |
|
Encephalocele, Absent eyebrow, Absent eyelashes, Cryptorchidism, Myelomeningocele, Hydrocephalus,... |
OMIM:219000 |
Raine Syndrome |
|
Hydrocephalus, Highly arched eyebrow |
OMIM:259775 |
Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Hypoplastic toenails, Cryptorchidism, Hydrocephalus, Low posterior hairline |
ORPHA:261337 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Hydrocephalus |
ORPHA:65285 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:616546 |
Yellow Fever |
|
Shock, Acute pancreatitis, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, ... |
ORPHA:99829 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Absent nipple |
OMIM:104350 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Hydrocephalus, Renovascular ... |
ORPHA:3472 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly, Neonatal hypoglycemia, Large for gestational age, ... |
ORPHA:457359 |
Osteopathia Striata With Cranial Sclerosis |
|
Hydrocephalus, Failure to thrive, Spina bifida occulta |
OMIM:300373 |
Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Abnormal eyelash morphology, Cryptorchidism, Abnormality of the gallbla... |
ORPHA:818 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Limb dystonia, Failure to thrive |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Limb dystonia, Failure to thrive |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Limb dystonia, Failure to thrive |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Limb dystonia, Failure to thrive |
ORPHA:220386 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Short nail, Supernumerary nipple, Splenomegaly, Cryptorchidism, Hydrocephalus, Card... |
OMIM:312870 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:91350 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Coffin-Siris Syndrome 12 |
|
Sparse scalp hair, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Nonco... |
OMIM:619325 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal hair whorl, Hydrocephalus, Ventriculomegaly |
ORPHA:457284 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cryptorchidism, Hydrocephalus, Hyperconvex fingernails, Hypogonadism, Hypoplastic fingernail |
ORPHA:2658 |
Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Hypertension, Hypomelanotic macule, Subependymal nodules, Ungual ... |
ORPHA:805 |
Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Sparse lower eyelashes, Absent lower eyelashes |
OMIM:154400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Ventriculomegaly, Small for gestational age, Cerebral hemorrhage, Hydroceph... |
ORPHA:666 |
Mycophenolate Mofetil Embryopathy |
|
Hypoplastic toenails, Hydrocephalus |
ORPHA:268249 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Sparse axillary hair, Decreased f... |
ORPHA:251510 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Highly arched eyebrow, Autoimmune thrombocytopenia, Sparse eyebrow, Cryptorchid... |
OMIM:147920 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Microphthalmia With Limb Anomalies |
|
Abnormal eyebrow morphology, Hydrocephalus, Failure to thrive, Cryptorchidism |
ORPHA:1106 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Thick eyebrow, Lateral ventricle dilatation |
OMIM:618367 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Campomelic Dysplasia |
|
Short nail, Spina bifida, Hydrocephalus, Spinal dysraphism, Failure to thrive |
OMIM:114290 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Synophrys, Hydrocephalus, Hypogonadism, Anonychia, Anemia |
ORPHA:3042 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Sparse eyebrow, Communicating hydrocephalus, Ventriculomegaly, Large for gestational age |
OMIM:617011 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Failure to thri... |
OMIM:219700 |
Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ... |
OMIM:163950 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormality of the liv... |
ORPHA:2369 |
Marden-Walker Syndrome |
|
Hydrocephalus, Failure to thrive |
ORPHA:2461 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Cryptorchidism, Synophrys, Dilated cardiomyopathy, Hydrocephalus, O... |
OMIM:607872 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus, Hyperpigmentation of the skin |
ORPHA:637 |
Split Cord Malformation |
|
Tufted hairs, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Menin... |
ORPHA:573278 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Inguinal freckling, Axillary freckling, Hydrocephalus, Mitral regurgitation, Pulmonic stenosis, H... |
ORPHA:363700 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus |
ORPHA:1780 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dystonia, Cerebral hemorrhage, Hydrocephalus, Retinal hemorrhage, Ischemic stro... |
OMIM:175780 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Peters-Plus Syndrome |
|
Bilobate gallbladder, Cryptorchidism, Hydrocephalus, Biliary tract abnormality, Pulmonic stenosis... |
OMIM:261540 |
Tetraamelia Syndrome 1 |
|
Asplenia, Hydrocephalus |
OMIM:273395 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Cryptorchidism, Pulmonic stenosis, Dystonia, High anterior hairline... |
ORPHA:438213 |
Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Holoprosencephaly 9 |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly |
OMIM:610829 |
Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, Hydrocephalus, Small for gestational age |
OMIM:208150 |
Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Biliary tract abnormality... |
OMIM:268300 |
Peters Plus Syndrome |
|
Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Spina bifida occulta, Ventriculomegaly |
ORPHA:709 |
Baller-Gerold Syndrome |
|
Hydrocephalus, Spina bifida occulta, Anomalous splenoportal venous system |
OMIM:218600 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
Oeis Complex |
|
Cryptorchidism, Myelomeningocele, Hydrocephalus |
OMIM:258040 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Hypoplastic toenails, Cryptorchidism, Hydrocele testis, Chordee |
OMIM:619522 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
Exstrophy-Epispadias Complex |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction |
ORPHA:322 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Dandy-Walker malformation, Anencephaly, Severe hydrocephalus |
OMIM:236680 |
Otopalatodigital Syndrome, Type Ii |
|
Cryptorchidism, Widow's peak, Hydrocephalus, Spina bifida |
OMIM:304120 |
Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
Townes-Brocks Syndrome 1 |
|
Cryptorchidism, Hydrocephalus, Small for gestational age, Holoprosencephaly |
OMIM:107480 |
Loeys-Dietz Syndrome 2 |
|
Hydrocephalus |
OMIM:610168 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:164210 |