| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| 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 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| 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, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| 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 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
| Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
| 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 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
| 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 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
| 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 |
| Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| 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 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility |
ORPHA:98797 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Cardiac arrest, Pneumonia, Respiratory tract infection, Atelectasis, Nasal... |
ORPHA:70587 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Cyanosis, Anorexia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmo... |
ORPHA:330012 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
| 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 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... |
OMIM:267450 |
| Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... |
OMIM:615505 |
| Asbestos Intoxication |
|
Edema, Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular in... |
ORPHA:2302 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Ciliary Dyskinesia, Primary, 6 |
|
Recurrent respiratory infections, Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary... |
OMIM:610852 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper... |
ORPHA:60032 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Cough,... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... |
OMIM:617091 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein arms, Decreased nasa... |
OMIM:614874 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Ciliary dyskinesia, Abnormal respiratory motile cilium morpho... |
OMIM:215520 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... |
OMIM:613808 |
| Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dy... |
OMIM:614017 |
| Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... |
ORPHA:79126 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiectasis, Decreased nas... |
OMIM:612444 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Increased CSF pr... |
OMIM:611722 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... |
OMIM:620265 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
| Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin... |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Cough, Absent outer dynein arms, Asthma, Bronc... |
OMIM:616037 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial ef... |
ORPHA:199241 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... |
OMIM:614679 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abn... |
ORPHA:70578 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Crackles, Tachypnea, Choreoathetosis, Cough, Oxygen desaturation on exertio... |
OMIM:610978 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Urticaria, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Hypohidrotic ectode... |
OMIM:225050 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... |
ORPHA:70588 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... |
OMIM:615444 |
| Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Infertility, Oligozoospermia |
OMIM:615703 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Pericardial effusion, Shortened PR interval, ... |
OMIM:261740 |
| Ciliary Dyskinesia, Primary, 45 |
|
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... |
OMIM:618801 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:608644 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Ciliary Dyskinesia, Primary, 10 |
|
Ciliary dyskinesia, Chronic sinusitis, Abnormal respiratory motile cilium morphology, Recurrent s... |
OMIM:612518 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ... |
OMIM:614935 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... |
OMIM:242670 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... |
OMIM:608647 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619949 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab... |
OMIM:618063 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Suprav... |
ORPHA:75249 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... |
OMIM:606763 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... |
OMIM:615482 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Inability to walk, Dyspnea, Dysphagia, Respir... |
ORPHA:90117 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degr... |
OMIM:115197 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... |
ORPHA:399805 |
| Congenital Heart Block |
|
Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he... |
ORPHA:60041 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Cough, Dyspnea, Abnormal lung morphology, Abnor... |
ORPHA:50251 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, B... |
OMIM:244400 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Decreased testicular size... |
ORPHA:320391 |
| Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Erythema, Subependymal cy... |
OMIM:610015 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:171703 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Pneumonia, Cough, Nonproductive cough, Dyspnea, Pneumothorax, Tachyp... |
ORPHA:36238 |
| Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Ab... |
OMIM:618300 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Inability to walk, Abnormal respiratory system physiology, Respiratory in... |
ORPHA:266 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Bronchiolitis, Right bundle branch block, Pulmonary fibrosis, Dysphagia, Loss of amb... |
ORPHA:254361 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis, Dysphagia |
OMIM:617055 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pleural effusion, Respiratory fai... |
ORPHA:542323 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, ... |
OMIM:620197 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Apnea, Increased CSF lactate, Respiratory failure, Bradycardia, Hypertrophic ca... |
OMIM:616277 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Junct... |
ORPHA:137675 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... |
ORPHA:330001 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Ground-glass opacific... |
ORPHA:1302 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Glycine Encephalopathy 2 |
|
Respiratory failure, Increased CSF glycine concentration |
OMIM:620398 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Myocarditis, Pedal edema, Cardiorespiratory arrest, Pleural effusion, H... |
ORPHA:188 |
| Acute Lung Injury |
|
Shock, Respiratory distress, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, A... |
ORPHA:178320 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Strido... |
ORPHA:2004 |
| Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Polyhydramnios, Dysphagia |
OMIM:615348 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... |
OMIM:620032 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Dysphagia, Cough, Abnorma... |
ORPHA:77260 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Loss of ambulation, Respiratory failure, Respiratory insufficiency due to muscle weakness, Death ... |
OMIM:300717 |
| Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough |
ORPHA:64741 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Rhinorrhea, Bradycardia, Flushing |
OMIM:167400 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Tricuspid regurgitation, Congestive heart failure, Chronic pulmon... |
ORPHA:2414 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia, Recurrent respiratory infections |
OMIM:312612 |
| Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Ventriculomegaly, Cerebral hemorrhage, Respiratory insuffici... |
OMIM:617397 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Apnea, Decreased CSF serine concentration, Decreased CSF glycine concentration,... |
OMIM:610992 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, ... |
OMIM:618709 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Respiratory insufficiency, Dysphagia |
OMIM:616276 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Ataxia, Congestive hear... |
ORPHA:31826 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
| Spermatogenic Failure 28 |
|
Non-obstructive azoospermia, Decreased testicular size, Male infertility |
OMIM:618086 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cyanosis, Recurrent respiratory i... |
ORPHA:980 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... |
ORPHA:45452 |
| Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Respiratory failure, Respiratory failure requiring assisted ventilation... |
ORPHA:132 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure, Polyhydramnios, Dysphagia |
OMIM:225753 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms |
OMIM:616341 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Ataxia, Dysphagia |
OMIM:618637 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Respiratory f... |
ORPHA:2590 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Dysphagia, Neon... |
OMIM:619751 |
| Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... |
ORPHA:90068 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... |
OMIM:610476 |
| Myopathy, Myofibrillar, 1 |
|
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Third degree atrioventr... |
OMIM:601419 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... |
ORPHA:100057 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis, Ataxia, Choreoathetosis, Hypoglycorrhachia, Lethargy |
ORPHA:71277 |
| Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilate... |
ORPHA:563 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Whee... |
OMIM:620233 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Death in infancy, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Cutis marmorata, Ventriculomegaly |
OMIM:615937 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... |
OMIM:614399 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Inability to walk, Ventriculomegaly |
OMIM:617977 |
| Chiari Malformation Type Ii |
|
Cyanosis, Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Dysphagia, ... |
OMIM:207950 |
| C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... |
OMIM:620321 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia, Ventriculomegaly, Death in infancy |
OMIM:616299 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Unilateral cryptorchidism, Polyhydramnios, Bilateral cryp... |
OMIM:300219 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Erythema, Neuromuscular dysphag... |
ORPHA:449285 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... |
ORPHA:8 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Apnea, Central hypoventilation, Dysmetria, Increased CSF lactate, Respi... |
OMIM:618233 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Increased CSF lactate,... |
OMIM:312170 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Respiratory failure, Polyhydramnios |
OMIM:616794 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Increased CSF lactate |
ORPHA:238329 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Recurrent respiratory infections, Ciliary dyskinesia |
ORPHA:1882 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Cryptorchidism, Respiratory insufficiency, Respiratory failure, Loss of ambulation, Ventriculomegaly |
ORPHA:370968 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Pulmonary edema, Ataxia, Restlessness, Cardiac conduction abnor... |
ORPHA:466677 |
| Congenital Myopathy 14 |
|
Death in infancy, Apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Respir... |
OMIM:618414 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:300200 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... |
ORPHA:340 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Respiratory failure, Dysphagia |
OMIM:613435 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Inability to walk, Cryptorchidism, Respiratory ... |
OMIM:611890 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Idiopathic Pulmonary Hemosiderosis |
|
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Crackles, Dyspnea, Ground-glass o... |
ORPHA:99931 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Ataxia, Respiratory failure, Dysphagia, Loss of ambulation, Ventriculomegaly |
OMIM:620166 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Polyhydramnios, Respiratory failure, Pulmonary hypoplasia, Dysphagia |
OMIM:616867 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Choki... |
ORPHA:137914 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Intermediate Nemaline Myopathy |
|
Polyhydramnios, Cardiomyopathy, Respiratory failure, Difficulty walking, Dysphagia |
ORPHA:171433 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... |
ORPHA:411703 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Conge... |
ORPHA:454836 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Bradykinesia, Neuromuscular dysphagia, Falls, Respiratory distress |
ORPHA:240085 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Anorexia, Respiratory failure, Lethargy, Hypertrophic cardiomyopathy |
OMIM:619386 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
| Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Anorexia, CSF pleocytosis, CSF lymphocytic pleiocyto... |
ORPHA:79139 |
| Lujo Hemorrhagic Fever |
|
Shock, Respiratory distress, Generalized edema, Crackles, Facial edema, Myocarditis, Periorbital ... |
ORPHA:319213 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo... |
OMIM:620326 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ... |
ORPHA:538 |
| Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Ataxia, Fetal ascites, Polyhydramnios, Jaundice,... |
OMIM:607625 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Complete Atrioventricular Septal Defect |
|
Crackles, Tachypnea, Atrioventricular block, Lethargy, Abnormal EKG, Intercostal retractions, Ele... |
ORPHA:1329 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Hydrocephalus, Abnormal repetitive mannerisms |
OMIM:619470 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Apnea, Bradycardia |
OMIM:619048 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia |
ORPHA:99966 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Ataxia, Dilated cardiomyopathy, Tachypnea, Respiratory in... |
OMIM:614299 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis |
ORPHA:896 |
| Nipah Virus Disease |
|
Respiratory distress, Anorexia, Recurrent pharyngitis, Hypotension, Cough |
ORPHA:99825 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Inability... |
ORPHA:70 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Ataxia, Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Ataxia, Apnea, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, G... |
OMIM:619580 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Congestive heart failure, Increased CSF lactate, Respiratory failure, ... |
ORPHA:70472 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure, Tip-toe gait, Difficulty walking, Dysphagia,... |
OMIM:606612 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Polyhydramnios, Respiratory insufficiency, Increased CSF lactate, Respiratory failure, Increased ... |
OMIM:615330 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Increased CSF lactate, Hypopnea, Respiratory failure, Bradycar... |
OMIM:617248 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Inability to walk, Intercostal muscle weakness, Aspiration, Respira... |
ORPHA:258 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Restlessness, Ventriculomegaly, Ataxia, Myelopathy, Increased CSF lactate, Bradypnea, Respiratory... |
OMIM:617186 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Ascites, Respiratory failure |
ORPHA:890 |
| Edinburgh Malformation Syndrome |
|
Death in infancy, Jaundice, Hydrocephalus |
OMIM:129850 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Akinesia, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal death |
OMIM:619334 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, P... |
OMIM:300580 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Pulm... |
ORPHA:64739 |
| Mercury Poisoning |
|
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Hypertension, Interstitial pneumonitis, Res... |
ORPHA:330021 |
| Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress |
OMIM:615993 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Cardiorespiratory arrest, Strido... |
OMIM:608800 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure, Agenesis of corpus callosum, Ventricul... |
ORPHA:168486 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, Ascites, Oligoh... |
OMIM:614702 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Generalized edema, Apnea, Polyhydramnios, Edema, Hydrocele... |
ORPHA:79330 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Ataxia |
OMIM:619099 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, Hypertrop... |
OMIM:618815 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... |
OMIM:234810 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia, Lethargy, Hype... |
OMIM:613561 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
| Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... |
ORPHA:91348 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... |
OMIM:619611 |
| Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... |
ORPHA:60033 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Subdural hemorrh... |
OMIM:618291 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... |
ORPHA:2257 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Respiratory insufficiency due to muscle weakness, Dyspnea, Dilate... |
ORPHA:352447 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Cln3 Disease |
|
Ataxia, Aggressive behavior, Bradykinesia, T-wave inversion, Shuffling gait, Bradycardia, Dysphag... |
ORPHA:228346 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Limb ataxia, Cardiomyopathy, Truncal ataxia, Increased CSF protein concentration, Orthost... |
OMIM:105210 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Increased CSF lactate, Bradycardia, Pulmonary arterial hypertension, Ventri... |
OMIM:619272 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy, Aggressive behavior |
OMIM:237310 |
| Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia, Dysphagia |
ORPHA:3299 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Cardiorespiratory arrest, Premat... |
OMIM:212138 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... |
OMIM:620296 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... |
ORPHA:2032 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
| Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... |
ORPHA:330015 |
| Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Abnormal EKG, Hypoventilation, Respiratory insufficiency due to muscle weakness, C... |
OMIM:310200 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
| Ogden Syndrome |
|
Apnea, Lymphedema, Ventricular tachycardia, Supraventricular tachycardia, Aspiration, Abnormal re... |
OMIM:300855 |
| Fried Syndrome |
|
Hydrocephalus, Gait disturbance, Aggressive behavior |
ORPHA:85335 |
| Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Death in infancy, Respiratory insufficiency due to muscle weakness, Inability to walk, Increased ... |
OMIM:617184 |
| Scedosporiosis |
|
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst... |
ORPHA:449280 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Ventriculomegaly, Cardiac arrest, Increased CSF lactate, ... |
OMIM:604377 |
| Timothy Syndrome |
|
Prolonged QT interval, Pneumonia, Bronchitis, Ventricular tachycardia, Atrioventricular block, Br... |
OMIM:601005 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory tract infection, Atelecta... |
ORPHA:365 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murm... |
ORPHA:2038 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, Polyhydramnios, First degree atriovent... |
OMIM:160900 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
OMIM:211530 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Respiratory insufficiency |
OMIM:614654 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... |
ORPHA:439 |
| Congenital Myopathy 22A, Classic |
|
Waddling gait, Tricuspid regurgitation, Polyhydramnios, Respiratory insufficiency, Normal pressur... |
OMIM:620351 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
| Congenital Myasthenic Syndrome |
|
Waddling gait, Recurrent respiratory infections, Cyanosis, Ataxia, Sudden episodic apnea, Polyhyd... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Recurrent respiratory infections, Cyanosis, Ataxia, Sudden episodic apnea, Polyhyd... |
ORPHA:98914 |
| Spinocerebellar Ataxia Type 1 |
|
Dysmetria, Bradykinesia, Progressive cerebellar ataxia, Dysdiadochokinesis, Respiratory failure, ... |
ORPHA:98755 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Death in childhood, Ventr... |
OMIM:610333 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Neonatal asphyxia, Lateral ventricle dilatation, Difficulty walking |
ORPHA:306669 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Bilateral... |
ORPHA:90797 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure, Ataxia |
ORPHA:1861 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Increased CSF lactate... |
OMIM:245400 |
| Alexander Disease |
|
Death in infancy, Ataxia, Hydrocephalus, Dysmetria, Death in adolescence, Death in childhood, Inc... |
OMIM:203450 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Lethargy |
ORPHA:26792 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Neoplasm of the lung, Stridor... |
ORPHA:142 |
| Hellp Syndrome |
|
Pulmonary edema, Poor wound healing, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal... |
ORPHA:244242 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Anorexia, Dehydration, Choreoathetosis, Cardiomyopathy, Lethargy |
ORPHA:79312 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Hypogonadism, Oligomenorrhea, Oligozoospermia |
ORPHA:91351 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Increased CSF lactate, Respiratory failure, Increase... |
OMIM:605711 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myocardial infarction, Cough, Acrocyanosis, Vasculitis, Respiratory insufficiency, Pul... |
ORPHA:183 |
| Tibial Muscular Dystrophy |
|
Cardiomyopathy, Respiratory failure, Steppage gait, Difficulty walking |
ORPHA:609 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Ataxia, Gait ataxia, Hypertension, Respirator... |
ORPHA:363400 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Polyhydramnios, Increased CSF lactate, Cardiomyopathy, Respiratory failure, Sti... |
OMIM:614922 |
| Idiopathic Congenital Hypothyroidism |
|
Facial edema, Lethargy, Bradycardia, Prolonged neonatal jaundice |
ORPHA:95717 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dysphagia, Dandy... |
ORPHA:163961 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Respiratory insufficiency, Limb ataxia, Dysphagia, Lateral ventricle dilatation, Intercos... |
OMIM:607596 |
| Tularemia |
|
Respiratory distress, Tachycardia, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmon... |
ORPHA:3392 |
| Sepsis In Premature Infants |
|
Tachycardia, Cyanosis, Abnormal mucociliary clearance, Edema, Dyspnea, Jaundice, Nasal flaring, A... |
ORPHA:90051 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Polyhydramnios, Cryptorchidism, Death in childhood, Lateral ventricle dilatation, Respiratory fai... |
OMIM:619847 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220200 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Tachypnea, Increased CSF lactate, Respiratory failure, Gait disturbance, Death in childho... |
OMIM:615838 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Hyperactivity, Neonatal respiratory distr... |
ORPHA:209905 |
| Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Hydrocephalus, Gait disturbance |
ORPHA:26 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation |
OMIM:619483 |
| Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Shuffling gait, Ventriculomegaly |
OMIM:303350 |
| Neuromyelitis Optica Spectrum Disorder |
|
CSF pleocytosis, Respiratory failure |
ORPHA:71211 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Apnea, Bradycardia |
OMIM:619814 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Difficulty walking, Dysphagia |
OMIM:613954 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
| 1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder |
ORPHA:250994 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Apnea, Bradycardia |
OMIM:614498 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Inability to walk, Tip-toe gait, Progressive cerebellar ataxia |
ORPHA:2596 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Bradykinesia, Respiratory distress, Dysphagia |
ORPHA:240103 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Self-mutilation |
OMIM:300884 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Increased CSF lactate |
OMIM:616974 |
| Malaria |
|
Respiratory distress, Gait imbalance |
ORPHA:673 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... |
OMIM:616414 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Broad-based gait, Ataxia, Apnea, Elevated CSF neopterin level, Difficulty w... |
ORPHA:79097 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Cardiomyopathy, Bradycardia, Pa... |
OMIM:615745 |
| Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Edema, Atelectasis, Hydrocephalus, Anencephaly, Respiratory insufficiency, Pulmon... |
OMIM:269860 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... |
ORPHA:133 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... |
OMIM:613838 |
| Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... |
ORPHA:333 |
| Leigh Syndrome |
|
Ataxia, Respiratory insufficiency, Increased CSF lactate, Respiratory failure, Abnormal pattern o... |
OMIM:256000 |
| Hereditary Methemoglobinemia |
|
Athetosis, Cyanosis, Exertional dyspnea |
ORPHA:621 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Cryptorchidism, Congestive heart failure, Respiratory failure, Arrhythmia, Hype... |
ORPHA:1194 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure, Increased CSF lactate |
OMIM:618240 |
| Myotonic Dystrophy 2 |
|
Hypogonadism, Oligozoospermia |
OMIM:602668 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
| Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Lethal Congenital Contracture Syndrome 2 |
|
Akinesia, Polyhydramnios, Edema, Dilated cardiomyopathy, Respiratory failure |
OMIM:607598 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Respiratory insuffic... |
ORPHA:93274 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Necrotizing Enterocolitis |
|
Shock, Apnea, Edema, Bradycardia, Hypotension, Lethargy, Ascites |
ORPHA:391673 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Bradycardia, Atrioventricular block, Truncal ataxia |
OMIM:614407 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Hypertension, Pulmonary hypoplasia, Oligohydramnios |
OMIM:616733 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency, Abnormal mitochondrial shape |
OMIM:610773 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Congestive heart failure, Hydro... |
ORPHA:3309 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Bradycardia, Prolonged neonatal jaundice |
ORPHA:226313 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Decreased CSF copper concentration, Pneumothorax, ... |
OMIM:620306 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Cyanosis, Anomalous origin of one pulmonary artery from ascend... |
ORPHA:3384 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Hydrocephalus, Ataxia, Pulmonary hypoplasia |
OMIM:618174 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cyanosis, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract ob... |
ORPHA:860 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Polyhydramnios, Edema |
ORPHA:1423 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Death in childh... |
OMIM:620278 |
| Hec Syndrome |
|
Communicating hydrocephalus, Polyhydramnios, Vaginal hydrocele, Respiratory insufficiency, Cardio... |
ORPHA:2119 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough |
ORPHA:2314 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Respiratory distress, Tachycardia, Pneumonia, Episodic tachypnea, Pericard... |
ORPHA:26793 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Ataxia, Apnea, H... |
OMIM:618426 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Inability to walk, Gait ataxia, Extra-axi... |
OMIM:619383 |
| Nephronophthisis 2 |
|
Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary hypoplasia, Pulmonary ins... |
OMIM:602088 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Ventriculomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Akinesi... |
OMIM:608013 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydroceph... |
OMIM:619302 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle dilatation, Gait dis... |
ORPHA:488627 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
| Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Recurrent pneumonia, Respiratory failure, Difficulty walking, Dysp... |
OMIM:620249 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... |
OMIM:612387 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomyopat... |
ORPHA:159 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Respiratory distress, Dyspnea, Cardiomyopathy, Difficulty walking, Cough |
ORPHA:86812 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hydrocephalus, Respiratory insufficiency, Death in childhood, Agenesis of corpu... |
OMIM:613153 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Increased CSF lactate, Gait ataxia |
OMIM:612075 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... |
ORPHA:786 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Congest... |
OMIM:615512 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
| Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphede... |
OMIM:620014 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Gait disturbance, Bradycardia, Dysphagia, Arrhythmia |
OMIM:609286 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Congestive heart failure, Hydrocephalus, Respiratory failure... |
OMIM:616482 |
| Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Tracheomalacia, Pulmonary insuff... |
OMIM:245650 |
| Solar Urticaria |
|
Edema, Periorbital edema, Dyspnea, Angioedema, Wheezing, Urticaria, Dermatographic urticaria, Syn... |
ORPHA:97230 |
| Severe Congenital Nemaline Myopathy |
|
Polyhydramnios, Edema of the dorsum of hands, Respiratory failure, Pulmonary hypoplasia, Dysphagia |
ORPHA:171430 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops f... |
ORPHA:292 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary hypoplasia, N... |
OMIM:619003 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
| Acalvaria |
|
Hydrocephalus, Abnormal lung lobation, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Respiratory insufficiency, Res... |
OMIM:609015 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Anorexia, Myocarditis, ... |
ORPHA:3452 |
| Illum Syndrome |
|
Apnea, Bradycardia |
OMIM:208155 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Ataxia, Partial agenesis of the corpus callosum, Tachypnea, Dysmetria, Dysphagi... |
OMIM:220111 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Lateral ventricle dilatation |
OMIM:616816 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Ventriculomegaly, Apnea, Dilated cardiomyopathy,... |
OMIM:608836 |
| Coach Syndrome 2 |
|
Hypertension, Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum |
OMIM:619111 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress |
OMIM:620011 |
| Amyotrophic Lateral Sclerosis |
|
Dyspnea, Xerostomia, Abnormal respiratory system physiology, Respiratory failure, Agitation |
ORPHA:803 |
| Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Ataxia, Congenital laryngeal stridor |
ORPHA:2254 |
| Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Supraventricul... |
ORPHA:97214 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Death in infancy, Lateral ventricle dilatation, Respiratory insufficiency |
OMIM:617668 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
| Thanatophoric Dysplasia |
|
Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Respiratory insufficiency, Pulmonar... |
ORPHA:2655 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Ataxia, Agitation, Cerebral ischemia, Lethargy, Abnormal repetitive mannerisms |
ORPHA:927 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress |
OMIM:615042 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Ataxia, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, In... |
OMIM:616034 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Lymphedema, Intracranial hemorrhage, Respiratory failure, Bruis... |
ORPHA:3226 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Ataxia |
ORPHA:1532 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Respiratory insufficie... |
ORPHA:536467 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Increased CSF lac... |
OMIM:220110 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Ataxia, Anorexia, Tachypnea, Lethargy |
ORPHA:79242 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Increased CSF lactate, Choreoathetosis, Dysphagia, Loss of ambulation, Hy... |
ORPHA:391428 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Polyhydramnios, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation, Ven... |
OMIM:617967 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Nocturnal hypoventilation, Reduced vital capacity, Respiratory failure, Difficulty walking |
OMIM:603689 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Increased CSF lactate, Lateral ventricle dilatation, Tip-toe gait, Bradycardia, L... |
ORPHA:565624 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Abnormal pulmonary inters... |
OMIM:617180 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cyanosis, Pericardia... |
ORPHA:555874 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea, Ventriculomegaly, Dysphagia |
OMIM:617301 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Recurrent respiratory infections, Edema, Inability to walk, Asthma, Gait ataxia, Lateral ventricl... |
OMIM:618606 |
| Central Precocious Puberty In Male |
|
Attention deficit hyperactivity disorder, Hydrocephalus, Abnormality of the testis size, Aggressi... |
ORPHA:649929 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity disorder |
ORPHA:261102 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Polyhydramnios, Pulmonary hypoplasia, Holoprosencephaly, Tracheomalacia, Ag... |
OMIM:202650 |
| D-Glyceric Aciduria |
|
Neonatal respiratory distress, Tongue thrusting, Bradycardia |
OMIM:220120 |
| Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Pneumonia, Anorexia, Right ventricular failure, Nonproductive cough, Dys... |
ORPHA:97287 |
| Familial Thyroid Dyshormonogenesis |
|
Facial edema, Lethargy, Bradycardia, Prolonged neonatal jaundice |
ORPHA:95716 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... |
ORPHA:90060 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency, Polyhydramnios |
OMIM:618186 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... |
OMIM:608758 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Congestive heart failure, Dyspnea, Cardiorespiratory arrest, Cardiomyopathy, R... |
ORPHA:26791 |
| Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Ataxia, Inability to walk, Partial agenesis of the corpus callosum... |
ORPHA:79243 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Neonatal respiratory distress, Apnea, Erythema, Retinal hemorrhage, Stridor, Hyperte... |
OMIM:614653 |
| Central Neurocytoma |
|
Lethargy, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus |
ORPHA:73256 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation... |
OMIM:212140 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios |
ORPHA:1143 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Progeroid facial appearance, Periorbital edema, Atelectasis, Recurrent pneumoni... |
OMIM:613177 |
| Encephalitis Lethargica |
|
Lethargy, Increased CSF protein concentration, Bradycardia, Hyperventilation |
ORPHA:83600 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly |
OMIM:614870 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Pneumonia, Bronchitis, Intraventricular hemorrhage, Neonatal... |
ORPHA:420741 |
| Gapo Syndrome |
|
Amenorrhea, Hypogonadism, Dysmenorrhea, Oligozoospermia |
ORPHA:2067 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus |
OMIM:258320 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia |
ORPHA:488635 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Agenesis of corpus callosum, Dysphagia |
ORPHA:89844 |
| Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Tricuspid regurgitation, Cyanosis, Increased nuchal translucency, Pneumo... |
OMIM:619879 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Dysmetria, Gait ataxia, Respiratory failure, Steppage gait |
OMIM:616505 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Congestive ... |
ORPHA:367 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Cryptorchidism, Abnormal resp... |
ORPHA:98905 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... |
ORPHA:348 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Cyanosis, Blood press... |
ORPHA:2299 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Dysdiadochokinesis, Gait disturbance, Dysphagia |
ORPHA:98805 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Recurrent pneumonia, Bradycardia, Dysphagia |
OMIM:613327 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
| Congenital Toxoplasmosis |
|
Jaundice, Ascites, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Ataxia, Apnea, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dy... |
ORPHA:2131 |
| Alexander Disease Type I |
|
Hydrocephalus, Ataxia, Dysphagia |
ORPHA:363717 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Respiratory insufficiency, Cardiomyopathy, Mit... |
ORPHA:746 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Myelomeningocele |
ORPHA:66637 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Myocarditis, Perior... |
ORPHA:73263 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Myopathy, Centronuclear, X-Linked |
|
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Polyhydramnios... |
OMIM:310400 |
| Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory ... |
ORPHA:98915 |
| Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Hydrocephalus, Hydrops fetalis, Death in childhood, Ascites |
OMIM:269920 |
| Sandestig-Stefanova Syndrome |
|
Respiratory failure, Ventriculomegaly |
OMIM:618804 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... |
OMIM:613243 |
| Tenorio Syndrome |
|
Apnea, Raynaud phenomenon, Hydrocephalus, Recurrent pneumonia, Syncope, Gait disturbance, Ventric... |
OMIM:616260 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Pedal ... |
ORPHA:422 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Respiratory tract infectio... |
ORPHA:805 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Restless legs, Inability to walk by childhood/adolescence, Steppage gait, Hydrocephalus |
ORPHA:99947 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Ataxia, Dilated cardiomyopathy, Arrhythmia, Lethargy, Hypertrophic cardiomy... |
ORPHA:254913 |
| Double Outlet Right Ventricle |
|
Tachycardia, Cyanosis, Tachypnea, Heart murmur, Pulmonic stenosis, Pulmonary artery atresia |
ORPHA:3426 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy, Hyp... |
OMIM:618775 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation |
OMIM:300558 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... |
OMIM:612098 |
| Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Alg1-Cdg |
|
Cardiomyopathy, Respiratory failure |
ORPHA:79327 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Ataxia, Dyspnea, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy... |
OMIM:610505 |
| Thanatophoric Dysplasia Type 1 |
|
Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Respiratory insufficiency, Aplasia/... |
ORPHA:1860 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Crackles, Ground-glass opacification, Raynaud phenomenon, Respiratory t... |
ORPHA:79128 |
| Joubert Syndrome 3 |
|
Central apnea, Enlarged fossa interpeduncularis, Ataxia, Episodic tachypnea, Lateral ventricle di... |
OMIM:608629 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Impulsivity, Aggressive behavior, Dilated third ventricle, Cryptorchidism, Asthma, Hydrocephalus,... |
ORPHA:500055 |
| Relapsing Polychondritis |
|
Pericarditis, Myocarditis, Atelectasis, Erythema, Dyspnea, Large vessel vasculitis, Cough, Abnorm... |
ORPHA:728 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Dilated cardiomyopathy, Bradycardia, Death in infancy |
OMIM:610768 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Choreoathetosis, Lethargy, Respiratory distress |
ORPHA:289916 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Respiratory failure, Hydrops fetalis, Ventriculomegaly |
ORPHA:88618 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cryptorchidism, Death in childhood |
OMIM:615597 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Ataxia, Dyspnea, Respiratory failure, Pulmonary hy... |
OMIM:615636 |
| Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO... |
OMIM:233450 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Polyhydramnios, Hydrocephalus, Pulmonary hypoplasia, Neonatal death |
OMIM:187600 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Dehydration, Dysphagia, Hypertension, Agitation, Bradycardia, Hy... |
ORPHA:94093 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Apnea, Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, In... |
OMIM:600721 |
| Criss-Cross Heart |
|
Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Pulmonic stenosis, Mitral stenosis, Supr... |
ORPHA:1461 |
| Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Death in infancy, Lateral ventricle dilatation, Polyhydramnios |
OMIM:618266 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Restlessness, Edema of the dorsum of feet, Edema of the dorsum of hands |
ORPHA:544503 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion, Ascites |
OMIM:306400 |
| Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele, Respiratory insufficiency |
ORPHA:1914 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Oligozoospermia |
OMIM:614813 |
| Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop... |
OMIM:113900 |
| Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Anorexia, Inability to walk, Hypertension, Hy... |
ORPHA:2912 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Difficulty w... |
OMIM:619482 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Respirato... |
ORPHA:363705 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Polyhydramnios, Epi... |
ORPHA:1199 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... |
ORPHA:90065 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Williams-Beuren Region Duplication Syndrome |
|
Cutis marmorata, Cryptorchidism, Hydrocephalus, Gait disturbance, Attention deficit hyperactivity... |
OMIM:609757 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus, Inability to walk |
OMIM:613155 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Ecchymosis, Internal hemorrhag... |
ORPHA:99827 |
| Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Abnormal repetitive ma... |
OMIM:613443 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Cryptorchidism, Heart murmur, Acrocyanosis, Decreased testicular size |
ORPHA:1867 |
| Moebius Syndrome |
|
Respiratory distress, Dysdiadochokinesis, Gait disturbance, Dysphagia, Decreased testicular size |
OMIM:157900 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Recurrent respiratory infections, Increased CSF lactate, Sinus bradycardia, Death in childhood, V... |
OMIM:618397 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Abnormal lung m... |
ORPHA:141127 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Ataxia, Apnea, Concentric hypertrophic cardiomyopathy, Respiratory in... |
OMIM:252010 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Ataxia, Polyhydramnios, Recurrent pneumonia, ... |
ORPHA:496641 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Cyanotic episode |
ORPHA:284417 |
| Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Ventriculomegaly, Apnea, Inability to walk, Bradycardia, Agenes... |
ORPHA:97297 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Oligohydramnios |
ORPHA:261304 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ataxia, Telangiectasia |
OMIM:608799 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Gait disturbance, Ventriculomegaly |
ORPHA:272 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Prematur... |
ORPHA:3342 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:1895 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Inability to walk, Dystonic gait, Respiratory failure, Difficulty walking |
ORPHA:280210 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:93262 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Respiratory failu... |
ORPHA:679 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Left-to-right shunt, Cyanosis, Congestive heart failure, Left v... |
ORPHA:99050 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Ataxia, Hypercapnia, Reduced forced vital c... |
OMIM:164310 |
| Dravet Syndrome |
|
Impulsivity, Bradykinesia, Progressive gait ataxia, Obsessive-compulsive trait, Cyanotic episode |
ORPHA:33069 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Aicardi-Goutieres Syndrome 1 |
|
Inability to walk, Vasculitis, Erythema, Chronic CSF lymphocytosis, Increased CSF interferon alph... |
OMIM:225750 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Death in infancy, Atelectasis, Cryptorchidism, Dehydration, Res... |
ORPHA:534 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
| Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction... |
ORPHA:221 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Cardiomyopathy, Respiratory failure, Pneumothorax |
ORPHA:445038 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Hydrocephalus |
OMIM:300886 |
| Nocardiosis |
|
Respiratory distress, Pericarditis, Pneumonia, Anorexia, Productive cough, Nonproductive cough, D... |
ORPHA:31204 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia, Aortic valve stenosis, Dandy-Walker malf... |
OMIM:220220 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Oligohydr... |
ORPHA:163596 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Polyhydramnios, Spina bifida, Atelectasis, Cryptorchidism, Asthma, A... |
ORPHA:567 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... |
OMIM:620067 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t... |
ORPHA:79138 |
| Halperin-Birk Syndrome |
|
Inability to walk, Pseudobulbar paralysis, Colpocephaly, Death in childhood, Aspiration, Agenesis... |
OMIM:618651 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Hydrocephalus, Later... |
OMIM:612863 |
| Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Orchitis, Nonproductive cough, J... |
ORPHA:99826 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Recurrent pneumonia, Lateral ventricle dilatation, Trach... |
OMIM:617751 |
| Temple Syndrome |
|
Cryptorchidism, Hydrocephalus, Polyphagia |
ORPHA:254516 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Cryptorchidism, Respiratory insufficiency |
ORPHA:1145 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy |
OMIM:184260 |
| Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Hydrocephalus, Cough... |
ORPHA:1546 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Ataxia, Polyhydramnios, Congestive heart failure, Recurrent pneumonia, Dehy... |
OMIM:616271 |
| Episodic Ataxia Type 1 |
|
Choreoathetosis, Tip-toe gait, Respiratory distress |
ORPHA:37612 |
| Achondroplasia |
|
Respiratory distress, Death in infancy, Polyhydramnios, Hydrocephalus, Upper airway obstruction, ... |
OMIM:100800 |
| Congenital Sialidosis Type 2 |
|
Abnormal EKG, Ataxia, Edema, Respiratory tract infection, Hydrocephalus, Dysmetria, Telangiectasi... |
ORPHA:93400 |
| Joubert Syndrome |
|
Encephalocele, Ataxia, Episodic tachypnea, Apnea, Hydrocephalus, Gait disturbance, Abnormal patte... |
ORPHA:475 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Spastic gait, Difficulty walking |
ORPHA:401815 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Respiratory distress, Abnormal ple... |
ORPHA:537 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Miscarriage, Cryptorchidism, Hydrocephalus, Hydrops fetalis, Respiratory insuffici... |
ORPHA:1865 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Ataxia, Apnea, Hydrocephalus, Gait disturbance, Agenesis of corpus callosum, Abnor... |
ORPHA:220497 |
| Boutonneuse Fever |
|
Respiratory failure, Vasculitis, Petechiae |
ORPHA:83313 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Cutis marmorata, Ventriculomegaly |
OMIM:602501 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Lethargy |
OMIM:251000 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Disinhibition, Ventriculomegaly |
ORPHA:2770 |
| Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Respiratory failure, Fragil... |
ORPHA:158687 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Holoprosencephaly, Polyhydramnios |
ORPHA:990 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia, Death in infancy |
OMIM:241800 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ataxia, Polyhydramnios, Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly... |
OMIM:619833 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Q Fever |
|
Respiratory distress, Pericarditis, Pneumonia, Anorexia, Pericardial effusion, Myocarditis, Vascu... |
ORPHA:781 |
| Oromandibular Dystonia |
|
Respiratory distress, Dysphagia, Bruxism |
ORPHA:93958 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Transient ischemic attack, Cutis marmorata, Supraventricular arrhythmia, Pu... |
ORPHA:3260 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Ventriculomegaly, Cough, Cryptorchidism, Hydrocephalus, Pulmoni... |
ORPHA:96170 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Edema, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Dehydratio... |
ORPHA:79404 |
| Geleophysic Dysplasia 3 |
|
Pneumonia, Polyhydramnios, Dyspnea, Mitral regurgitation, Respiratory failure |
OMIM:617809 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
| Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, CSF pleocytosis, Hydrocephalus, Vasculitis, Pulmon... |
ORPHA:228123 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Aggressive behavior, Lateral ventricle dilatation, Inappropriate behavior, Disinhibition, Gait di... |
OMIM:221770 |
| Niemann-Pick Disease Type C |
|
Ataxia, Fetal ascites, Aggressive behavior, Jaundice, Abnormal lung morphology, Hydrops fetalis, ... |
ORPHA:646 |
| Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... |
ORPHA:137667 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
| Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... |
OMIM:609040 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
| Crouzon Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:207 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Bradycardia, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice,... |
ORPHA:90674 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:304100 |
| Stt3B-Cdg |
|
Respiratory distress, Cryptorchidism |
ORPHA:370924 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
| Infantile Krabbe Disease |
|
Abnormal heart rate variability, Respiratory failure, Increased CSF protein concentration, Respir... |
ORPHA:206436 |
| Congenital Fibrinogen Deficiency |
|
Decreased testicular size, Tachycardia, Cyanosis, Bruising susceptibility, Internal hemorrhage, S... |
ORPHA:335 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hydrocephalus, Gait disturbance |
ORPHA:2181 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in chi... |
OMIM:619517 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... |
ORPHA:505248 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Hydrocephalus |
ORPHA:83473 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor, Mitochondrial swelling, Increased CSF lactate |
OMIM:615595 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Respiratory insufficiency, Cyanosis, Apnea, Difficulty walking |
OMIM:617239 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Respiratory distress, Tachycardia, Sinusitis, Pneumonia, Edema, Respiratory tract infectio... |
ORPHA:36234 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Polyhydramnios, Edema, Cryptorchidism, Recurrent upper respiratory tract in... |
OMIM:607143 |
| Leigh Syndrome |
|
Ataxia, Congestive heart failure, Increased CSF lactate, Choreoathetosis, Athetosis, Respiratory ... |
ORPHA:506 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Respiratory insufficiency |
ORPHA:1237 |
| Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus |
ORPHA:2635 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Respiratory failure, Stillbirth, Ascites, Ventriculomegaly |
OMIM:259720 |
| Listeriosis |
|
Respiratory distress, Pericarditis, Ataxia, Pneumonia, Miscarriage, Myocarditis, Congestive heart... |
ORPHA:533 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Ataxia, Impulsivity, Inability to walk, Bradykinesia, Lateral ventricle dilatat... |
OMIM:617854 |
| Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest... |
ORPHA:185 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Recurrent upper respiratory tract infections, Lateral ventricle dilatat... |
ORPHA:3078 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Pettigrew Syndrome |
|
Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoath... |
OMIM:304340 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation, Pulmonary sequestration |
OMIM:618330 |
| Bloom Syndrome |
|
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia |
ORPHA:125 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Ataxia, Apnea, Hydrocephalus, Gait disturbance, Agenesis of corpus callosum, Abnor... |
ORPHA:220493 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Liver Disease, Severe Congenital |
|
Pneumonia, Jaundice, Abnormal left ventricular function, Hydrocele testis, Cough, Status asthmati... |
OMIM:619991 |
| Alexander Disease |
|
Ataxia, Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Hype... |
ORPHA:58 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Death in infancy, Polyhydramnios |
OMIM:600559 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... |
OMIM:610655 |
| Griscelli Syndrome |
|
Encephalocele, Ataxia, Jaundice, Hydrocephalus, Pedal edema, Premature graying of hair, Ascites |
ORPHA:381 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Bradycardia, Edema, Prolonged neonatal jaundice |
ORPHA:90673 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atrioventricular block... |
ORPHA:398124 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... |
ORPHA:141083 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Pulmonary hypopla... |
OMIM:608022 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Bilateral cryptorchidism, Congestive heart failure, Dilated cardi... |
ORPHA:2326 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia, Oral-pharyngeal dysphagia |
ORPHA:221098 |
| Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Recurrent bronc... |
OMIM:617303 |
| Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Atrial fibrillation, Prolonged QRS complex, L... |
ORPHA:273 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Cutis marmorata, Lateral ventricle dilatation, Oligohydramnios |
OMIM:614219 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Ataxia, Apnea, Hydrocephalus, Tachypnea |
ORPHA:2318 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Polyhydramnios, Hypercapnia, Respiratory insufficiency due to m... |
ORPHA:2020 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Akinesia, Polyhydramnios, Hydrocephalus, Hydranencephaly, Agenesis of corpus ca... |
OMIM:225790 |
| Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Hydrocephalus |
OMIM:615599 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Apnea, Cryptorchidism, Hydrocephalus, Choreoathetosis, Ventriculomegaly |
OMIM:614969 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus |
ORPHA:2183 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Cutis marmorata, Hydrocephalus, Cerebral ischemia, Arrhythmia, Ventri... |
ORPHA:60040 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Edema, Pericardial effusion, Hydrocephalus, Pleural effusion, Dandy-Walker malf... |
OMIM:617822 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Lateral ventricle dilatation |
OMIM:300982 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Abnormal temper tantrums, ... |
ORPHA:300573 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Hypertrophi... |
OMIM:613873 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Hogue-Janssen Syndrome 2 |
|
Inability to walk, Hydrocephalus, Gait ataxia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616362 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia, Polyhydramnios |
OMIM:151210 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Apnea, Dyspnea, Lethargy, Hyperventilation |
OMIM:229700 |
| Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Hypertension, Decre... |
OMIM:223900 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
| Cach Syndrome |
|
Truncal ataxia, Limb ataxia, Dysmetria, Lateral ventricle dilatation, Dysphagia, Oligohydramnios |
ORPHA:135 |
| Adnp Syndrome |
|
Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Cryptorchidism, Recurrent u... |
ORPHA:404448 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Poems Syndrome |
|
Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Ascites, Restricti... |
ORPHA:2905 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... |
ORPHA:95699 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Aggressive behavior, Noncommunicating hydrocephalus, Attention deficit hyperactivity diso... |
OMIM:619320 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ataxia, Apnea, Hydrocephalus, Gait disturbance, Lethargy, Ventriculomegaly |
ORPHA:395 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Polyhydramnios, Aggressive behavior, Bilateral cryptorchidism, Dysplastic corpus callosum, Increa... |
ORPHA:544488 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Polyhydramnios, Congestive heart failure, Jaundice, Letha... |
OMIM:617156 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios |
ORPHA:329178 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Double Outlet Left Ventricle |
|
Cyanosis, Cryptorchidism, Pulmonary artery stenosis, Tachypnea, Abnormal right ventricular functi... |
ORPHA:3427 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... |
OMIM:616812 |
| Colchicine Poisoning |
|
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Cardioresp... |
ORPHA:31824 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Recurrent sinu... |
OMIM:609029 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Ataxia, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemo... |
ORPHA:79282 |
| Myasthenia Gravis |
|
Raynaud phenomenon, Dyspnea, Acrocyanosis, Dysphagia |
ORPHA:589 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Hydrocephalus, Aqueductal stenosis, Tracheomalacia |
ORPHA:93259 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Cutis marmorata, Portal hypertension, Hydrocephalus, ... |
ORPHA:974 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
| Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis |
ORPHA:268943 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation, Ataxia |
OMIM:615889 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Tongue thrusting |
ORPHA:77299 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hypertension, Hydrocephalus, Cryptorchidism |
ORPHA:1555 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Inability to walk, Lateral ventricle dilatation, Bruxism |
OMIM:615716 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly |
ORPHA:588 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Ventriculomegaly, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Erythema, Gai... |
OMIM:618321 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Facial wrinkling, Cryptorchidism, Hydrocephalus, Compulsive behaviors, Attentio... |
ORPHA:93932 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Ataxia, Petechiae |
OMIM:602473 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Head-banging, Lateral ventricle dilatatio... |
ORPHA:177907 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:600376 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic respirat... |
ORPHA:255210 |
| Cholera |
|
Tachycardia, Miscarriage, Tachypnea, Dehydration, Hypovolemic shock, Hypotension, Aspiration pneu... |
ORPHA:173 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Generalized edema |
OMIM:271225 |
| Leptospirosis |
|
Respiratory distress, Pericarditis, First degree atrioventricular block, Anorexia, Jaundice, Reti... |
ORPHA:509 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hydrocephalus, Hypertension, Palmoplantar cutis laxa, Agenesis of corpus ca... |
OMIM:123790 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Hyperactivity, Ataxia, Aggressive behavior, Respiratory tract... |
ORPHA:581 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Cyanosis, Polyhydramnios, Aqueductal stenosis, Hyd... |
OMIM:306955 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration, Lateral ventricle dilatation, Agitation, Dysphagia |
ORPHA:2148 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Agenesis of corpus callosum |
OMIM:615249 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mitochondrial shape, Apnea, Aggr... |
ORPHA:17 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Emphysema, Bradycardia, Pulmonary artery aneurysm, Pulmonary artery dilatation, Pulmonary insuffi... |
OMIM:614437 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... |
ORPHA:275766 |
| Mgat2-Cdg |
|
Respiratory distress, Hydrops fetalis, Arrhythmia, Reflex asystolic syncope, Recurrent upper and ... |
ORPHA:79329 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary... |
ORPHA:208447 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Lateral ventricle dilatation, Dilated third ventricle, Scissor gait |
ORPHA:363654 |
| Mucopolysaccharidosis, Type Ii |
|
Congestive heart failure, Asthma, Recurrent pneumonia, Hydrocephalus, Tracheobronchomalacia, Airw... |
OMIM:309900 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Polydipsia, Cyanosis, Central hypoventilation, Aggressive behavior, Asthma, Recu... |
ORPHA:293987 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Carney Complex |
|
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... |
ORPHA:1359 |
| Bresek Syndrome |
|
Neonatal death, Cryptorchidism, Hydrocephalus, Decreased testicular size |
ORPHA:85284 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Restlessness, Oral-pharyngeal dysphagia, ... |
OMIM:615273 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Gait disturbance |
ORPHA:275543 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Cya... |
ORPHA:99125 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Hydrocephalus, Head-banging, Hematochezia, Self-injurious behav... |
OMIM:619575 |
| Medulloblastoma |
|
Ataxia, Cerebellar hemorrhage, Hydrocephalus, Dysmetria, Neoplasm of the lung, Progressive cerebe... |
ORPHA:616 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Unsteady gait, Agenesis of corpus callosum |
OMIM:617542 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Cryptorchidism, Cardiomyopathy, Tracheomalac... |
OMIM:217980 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cutis marmorata, Cryptorchidism, Hydrocephalus, Death in childhood, Hypertrophic cardiomyopathy, ... |
OMIM:612938 |
| Joubert Syndrome 2 |
|
Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Ataxia, Episodic tachypnea, Hydro... |
OMIM:608091 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Pul... |
ORPHA:1908 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Partial agenesis of the corpus callosum, Partial anomalous pulmonary ... |
OMIM:617478 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... |
ORPHA:1677 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Ventriculomegaly, Dandy-Walker malformation |
OMIM:300968 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Joint swelling, Pulmonary fibrosis |
OMIM:612852 |
| Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Ventriculomegaly, Communicating hydrocephalus, Polyhydramnios |
OMIM:618188 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Hydrocephalus, Mye... |
OMIM:613686 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Palpebral edema, Polyhydramnios |
ORPHA:50810 |
| Achondroplasia |
|
Hypoxemia, Restrictive ventilatory defect, Hydrocephalus |
ORPHA:15 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:616355 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Dyspnea, Hydrocephalus, Dilated cardiomyopathy, Er... |
ORPHA:2556 |
| Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Sinusitis, Apnea, Congestive heart failure, Hydrocephalus, Coug... |
ORPHA:579 |
| Alobar Holoprosencephaly |
|
Central apnea, Inability to walk, Hydrocephalus, Abnormal heart rate variability, Neural tube def... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Inability to walk, Hydrocephalus, Abnormal heart rate variability, Neural tube def... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Inability to walk, Hydrocephalus, Abnormal heart rate variability, Neural tube def... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Central apnea, Inability to walk, Hydrocephalus, Abnormal heart rate variability, Neural tube def... |
ORPHA:220386 |
| Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypopla... |
OMIM:620369 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Jaun... |
ORPHA:731 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Transient ischemic attack, Myocardial infarction, Jaundice, Prolonged neona... |
OMIM:274150 |
| Tarp Syndrome |
|
Broad-based gait, Cyanosis, Apnea, Cryptorchidism, Pulmonary hypoplasia |
ORPHA:2886 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Dandy-Walker malformation, Ventriculomegaly, Apnea, Occipital e... |
ORPHA:397715 |
| Costello Syndrome |
|
Polyhydramnios, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Respiratory failure, Arrh... |
OMIM:218040 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Pulmonary embolism, Hydrocephalus, Attention deficit hyperactivity d... |
ORPHA:3205 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Hydrocephalus, Pulmonary hypoplasia, Polyhydramnios |
OMIM:314390 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insuffici... |
OMIM:613658 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Ataxia, Apnea, Portal hypertension, Hydrocephalus, Gait disturbance, Abn... |
ORPHA:1454 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Lethargy, Dehydration |
OMIM:251110 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Ataxia, Hydrocephalus, Inappropriate laughter, Difficulty walking, Agenesis of ... |
OMIM:618476 |
| Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Pedal edema, Cardiorespiratory arrest, Cough, Pulmonary ... |
ORPHA:228116 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:171839 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... |
OMIM:137920 |
| Familial Dysautonomia |
|
Recurrent respiratory infections, Orthostatic hypotension, Tachycardia, Ataxia, Abnormal pleura m... |
ORPHA:1764 |
| Biotinidase Deficiency |
|
Respiratory distress, Ataxia, Apnea, Myelopathy, Lethargy, Hyperventilation |
ORPHA:79241 |
| Peho Syndrome |
|
Recurrent respiratory infections, Palpebral edema, Hydrocephalus, Pedal edema, Peripheral edema, ... |
ORPHA:2836 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Agenesis of cor... |
ORPHA:370959 |
| Hydroxykynureninuria |
|
Tachycardia, Abnormal repetitive mannerisms, Hypotension, Breathing dysregulation |
ORPHA:79155 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Respiratory failure |
OMIM:620327 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Heart block, Hydrocephalus, Cardiomyopathy, Arrhythmia, Agenesis o... |
ORPHA:228308 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
| 3C Syndrome |
|
Recurrent respiratory infections, Ventriculomegaly, Death in infancy, Hydrocephalus, Pulmonic ste... |
ORPHA:7 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Respiratory insufficiency, Holoprosencephal... |
OMIM:253800 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation, Edema |
ORPHA:79332 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Gait disturbance |
OMIM:613330 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Hydrocephalus, Cardiomyopathy, Arrhythmia, Agenesis of corpus call... |
ORPHA:157 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:227650 |
| Dextrocardia |
|
Abnormal EKG, Hydrocephalus, Abnormal lung lobation, T-wave inversion, Abnormal pulmonary situs m... |
ORPHA:1666 |
| Diabetic Embryopathy |
|
Cryptorchidism, Hydrocephalus, Abnormality of the pulmonary artery, Spinal dysraphism |
ORPHA:1926 |
| Kniest Dysplasia |
|
Respiratory distress, Gait disturbance, Tracheomalacia |
OMIM:156550 |
| Trisomy 1Q |
|
Polyhydramnios, Cryptorchidism, Increased nuchal translucency, Hydrocephalus, Hydrops fetalis, Ag... |
ORPHA:261344 |
| Mirage Syndrome |
|
Cryptorchidism, Hydrocephalus, Intracranial hemorrhage, Aspiration pneumonia, Decreased testicula... |
OMIM:617053 |
| Methylcobalamin Deficiency Type Cble |
|
Hypertension, Ventriculomegaly, Hydrocephalus, Lethargy |
ORPHA:2169 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Unsteady gait, Agenesis of corpus callosum |
OMIM:618733 |
| Nephronophthisis 18 |
|
Hypertension, Hydrocephalus |
OMIM:615862 |
| 7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Cutis marmorata, Aggressive behavior, Cryptorchidism, Hydrocephalus... |
ORPHA:96121 |
| Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
| Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Pneumonia, Hydrocephalus, Recurrent upper respiratory tract infections, ... |
OMIM:253200 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Death in infancy, Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
| Rabin-Pappas Syndrome |
|
Tracheomalacia, Hypoventilation, Hydrocephalus, Retinal telangiectasia |
OMIM:620155 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Prematurely aged appearance, Poor wound healing, Progeroid facial appearanc... |
OMIM:123700 |
| Eosinophilic Fasciitis |
|
Muscular edema, Acrocyanosis, Edema |
ORPHA:3165 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agitation, Disinhib... |
OMIM:607485 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Ataxia, Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
| Osteootohepatoenteric Syndrome |
|
Asthma, Hydrocephalus, Dehydration, Prolonged neonatal jaundice |
OMIM:619377 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Pulmonic... |
OMIM:618914 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Pneumonia, Raynaud phenomenon, Vasculitis, Hypertension, V... |
ORPHA:1855 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Aqueductal stenosis, Tracheomalacia |
ORPHA:93260 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
| Fraser Syndrome 3 |
|
Nonimmune hydrops fetalis, Hydrocephalus, Abnormal lung lobation, Stillbirth, Ascites, Oligohydra... |
OMIM:617667 |
| Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Recurrent upper respiratory tract infections, Hydrops fetalis, Cardiomyopathy, Chr... |
OMIM:253220 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Death in chil... |
OMIM:612301 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
| Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Respir... |
ORPHA:647 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Restrictive ventilatory defect, Cervical myelopathy, Respiratory distress |
OMIM:183900 |
| H Syndrome |
|
Recurrent pharyngitis, Hydrocephalus, Abnormal cardiovascular system physiology, Bronchiectasis, ... |
ORPHA:168569 |
| Gaucher Disease |
|
Death in infancy, Ataxia, Hydrocephalus, Abnormal pulmonary interstitial morphology, Hydrops feta... |
ORPHA:355 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Ataxia, Aggressive behavior, Dysmetria, Cardiomyopathy, Athetosis, Late... |
ORPHA:572798 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Stridor, Lethargy, Bradycardia |
OMIM:218700 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation |
OMIM:261990 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cryptorchidism, Cyanosis, Pulmonic stenosis |
ORPHA:3304 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Ventriculomegaly, Ataxia, Inability to walk, Death in adolescence, Lateral ventricle dilatation, ... |
OMIM:619229 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Attention deficit hyperactivity disorder, Aortic valve stenosis, Agenesis of corpu... |
ORPHA:459061 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ataxia, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Subepend... |
ORPHA:25 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Cutaneous photosensitivity |
ORPHA:2180 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Ataxia, Petechiae |
ORPHA:51188 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Hydrocephalus, Abnormal lung lobation, Ventriculomegaly |
OMIM:300514 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Broad-based gait, Ataxia |
ORPHA:438216 |
| Temple Syndrome |
|
Cryptorchidism, Hydrocephalus, Decreased testicular size |
OMIM:616222 |
| Dural Sinus Malformation |
|
Ataxia, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocep... |
ORPHA:97339 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Aplasia/Hypoplasia of the ... |
ORPHA:3301 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Broad-based gait, Poor wound healing, Hydrocephalus, Abnormal p... |
ORPHA:2072 |
| Pitt-Hopkins Syndrome |
|
Ataxia, Aggressive behavior, Cryptorchidism, Gait ataxia, Self-injurious behavior, Acrocyanosis, ... |
ORPHA:2896 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:601794 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
| Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Choking episodes |
OMIM:620352 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Polyhydramnios, Hydrops fetalis, Respiratory failure, Lateral ventricle dilatation |
OMIM:300868 |
| Joubert Syndrome 14 |
|
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Dandy-W... |
OMIM:614424 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Lethargy, Dehydration |
OMIM:251100 |
| Multiple Sulfatase Deficiency |
|
Ataxia, Periorbital edema, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Cryptorchidism |
ORPHA:2519 |
| Gitelman Syndrome |
|
Prolonged QT interval, Respiratory distress, Salt craving, Raynaud phenomenon, Pericardial effusi... |
ORPHA:358 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Death in childhood, Respiratory failure, Increased CSF lactate |
OMIM:618252 |
| Hydrolethalus |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Anencephaly, Agenesis of corpus callosum |
ORPHA:2189 |
| Apert Syndrome |
|
Hydrocephalus, Respiratory insufficiency, Hypertension, Agenesis of corpus callosum, Ventriculome... |
ORPHA:87 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Gait disturbance, Agenesis of corpus callosum, Ven... |
ORPHA:1812 |
| Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage |
ORPHA:49566 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Dandy-Walker malformation, Hydrocephalus, Pulmonic stenosis |
OMIM:220210 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Jaundice, Exertional dyspnea |
ORPHA:90033 |
| Triploidy |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Respiratory insufficiency, Colpocephaly, Mitral stenosis, Agenesis of corpus callosum, Ventriculo... |
OMIM:617260 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
| Digeorge Syndrome |
|
Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Hydrocele testis, Attent... |
OMIM:188400 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Bronchogenic cyst, Hydrocephalus, Subcutaneous lipoma |
ORPHA:2969 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Retinal telangiectasia |
OMIM:620157 |
| Chand Syndrome |
|
Atelectasis, Ataxia |
ORPHA:1401 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Facial edema, Bradycardia, Prolonged neonatal jaundice, Lethargy, Agenesis of corpus callosum |
ORPHA:226307 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Raynaud phenomenon, ... |
ORPHA:48435 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
| Tetrasomy 9P |
|
Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pachygyria, Polymicrogyria |
ORPHA:3310 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Mitral regurgitation, Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
| Hurler Syndrome |
|
Recurrent respiratory infections, Death in infancy, Angina pectoris, Hydrocephalus, Cardiomyopath... |
ORPHA:93473 |
| Abetalipoproteinemia |
|
Broad-based gait, Ataxia, Congestive heart failure, Dysmetria, Gait ataxia, Respiratory failure, ... |
ORPHA:14 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Self-injurious behavior, Hyperactivity, Lateral ventricle dilatation, Aggressive behavior |
OMIM:620075 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Asthma, Nasal flaring, Self-injurious behavior, Attention deficit hyperactiv... |
ORPHA:466943 |
| Czeizel-Losonci Syndrome |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Pulmonary hypoplasia, Spina bifida occulta |
ORPHA:2437 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Pedal edema, Sinus bradycardia |
OMIM:126320 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Inability to walk, Hydr... |
ORPHA:2356 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure, Polyhydramnios |
ORPHA:254528 |
| Marshall-Smith Syndrome |
|
Apnea, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Recurrent upper respiratory tract... |
OMIM:602535 |
| Encephalocraniocutaneous Lipomatosis |
|
Subcutaneous lipoma, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus... |
OMIM:613001 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:618736 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Lateral ventricular asymmetry, Progeroid facial appearance, ... |
OMIM:616914 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Polyhydramnios, Progeroid facial appearance, Recurrent pneumonia... |
OMIM:614098 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformation, Ventriculome... |
OMIM:617281 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Aggressive behavior, Inability to walk, Recurrent pneumonia, Lateral ventricle dilatation, Diffic... |
ORPHA:464738 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Hydrocephalus, Excessive wrinkled skin, Bruising susceptibility, Age... |
OMIM:612940 |
| Rh Deficiency Syndrome |
|
Tachycardia, Miscarriage, Jaundice, Tachypnea, Hypoxemia, Oligohydramnios |
ORPHA:71275 |
| Axial Mesodermal Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Oligohydramnios |
ORPHA:1834 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Recurrent upper respiratory tract infections, Ventriculomegaly, Dandy-Walker malfo... |
OMIM:217090 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
| Plague |
|
Respiratory distress, Tachycardia, Edema, Anorexia, Hematemesis, Unsteady gait, Acute infectious ... |
ORPHA:707 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Broad-based gait, Ataxia, Jaundice, Prolonged neonatal jaundice, Loss of am... |
OMIM:256810 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Telangiectasia |
OMIM:612582 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Transient ischemic attack, Dysplastic corpus callosum, Respiratory fail... |
ORPHA:500150 |
| Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:377 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Anomalous pulmonary venous return |
ORPHA:2184 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Hydrocephalus |
OMIM:259710 |
| Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Spina bifida, Tracheo... |
OMIM:114290 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Polyhydramnios, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Tip-toe ga... |
OMIM:617296 |
| 16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation, Colpocephaly, Dysphagia, Ventriculo... |
ORPHA:261250 |
| Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke, Attention deficit hyperactivity disorder |
ORPHA:447788 |
| Glutaric Acidemia I |
|
Choreoathetosis, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Steppage gait |
OMIM:256850 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Aggressive behavior, Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agene... |
OMIM:619244 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Lymphedema, Inability to walk, Lateral ventricle dilatation, Gai... |
ORPHA:2822 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Von Hippel-Lindau Syndrome |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Prominent superficial blood vessels, Cyanosis, Mitral stenosis, Angina pect... |
ORPHA:740 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
| Craniosynostosis 6 |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:616602 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Asthma, Bruising susceptibility, Allergic rhinitis |
OMIM:618162 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Hydrocephalus |
ORPHA:163966 |
| Malan Overgrowth Syndrome |
|
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Xerostomia, Self-mutilation |
ORPHA:1051 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... |
OMIM:614748 |
| Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus, Ascites |
OMIM:602361 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Apnea, Pulmonary artery stenosis, Hydrocephalus, Chronic rhinit... |
ORPHA:667 |
| Dubowitz Syndrome |
|
Cutis marmorata, Cryptorchidism, Asthma, Hydrocephalus, Spina bifida occulta, Respiratory insuffi... |
ORPHA:235 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Upper airway obstruction |
OMIM:207410 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Hyperactivity, Impulsivity, Aggressive behavior, Recurrent upper res... |
ORPHA:580 |
| Holoprosencephaly |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Spinal dysraphism, Aplas... |
ORPHA:2162 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Palpebral edema, Cryptorchidism,... |
OMIM:614866 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Pulmonary hypoplasia |
OMIM:612284 |
| Myhre Syndrome |
|
Ataxia, Pericardial effusion, Cryptorchidism, Respiratory insufficiency, Hypertension, Respirator... |
OMIM:139210 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly, Polyhydramnios |
OMIM:219730 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
| Rhombencephalosynapsis |
|
Hydrocephalus, Ataxia, Ventriculomegaly |
ORPHA:59315 |
| Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... |
OMIM:300952 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Pulmonary hypoplasia, Occipital meni... |
OMIM:616546 |
| Oxoglutaric Aciduria |
|
Hydrocephalus, Ataxia |
ORPHA:31 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Hypertension, Lateral ventricle d... |
OMIM:619487 |
| Distal Triplication 15Q |
|
Hydrocele testis, Hydrocephalus, Pulmonary hypoplasia, Dandy-Walker malformation |
ORPHA:314588 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Colpocephaly, Pulmonary artery atresia, Agenesis of corp... |
OMIM:620113 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238769 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Cryptorchidism, Emphysema, Death in infancy |
OMIM:224690 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Bilateral ... |
OMIM:616268 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Urticaria, Interstitial pneumo... |
ORPHA:37042 |
| Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Tricuspid reg... |
OMIM:612289 |
| Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Inability to walk, Partial agenesis of the corpus callosum, Lateral ventricle dil... |
ORPHA:300570 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydro... |
OMIM:614643 |
| Walker-Warburg Syndrome |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculo... |
ORPHA:899 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Cryptorchidism, Respiratory failure, Dyspnea |
ORPHA:2554 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Prematurely aged appearance, Ataxia, Hydrocephalus, Urticaria, Cutaneous photosensitivity |
ORPHA:220295 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Lateral ventricle dilatation, Abnormal temper tantrum... |
ORPHA:457279 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Edema, Valvular pulmonary stenosis, Hydrop... |
OMIM:212093 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus, Oligohydramnios |
OMIM:616294 |
| 15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Ag... |
ORPHA:314585 |
| Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Hydrocephalus, Agenesis of corpus callosum, Hydrops fetalis |
ORPHA:268249 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Bainbridge-Ropers Syndrome |
|
Death in infancy, Polyhydramnios, Inability to walk, Cryptorchidism, Self-injurious behavior, Lat... |
OMIM:615485 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ... |
OMIM:619475 |
| Cog5-Cdg |
|
Cryptorchidism, Lateral ventricle dilatation, Truncal ataxia, Premature skin wrinkling, Oligohydr... |
ORPHA:263487 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Polyhydramnios, Intraventricular hemorrhage, Hydrocephalus, Hydrocele testis, Ventriculomegaly |
OMIM:613603 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Vacterl With Hydrocephalus |
|
Polyhydramnios, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Pulmonary hypop... |
ORPHA:3412 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Agenesis of corpus callosum, ... |
OMIM:257300 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Polyhydramnios, Cryptorchidism, Lateral ventricle dilatation, Pulmonic sten... |
OMIM:619745 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Testicular neoplasm, Spina bifida, Intraventricular hemorrhage,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Testicular neoplasm, Spina bifida, Intraventricular hemorrhage,... |
ORPHA:363958 |
| Desmosterolosis |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Anomalous pulmonary venous return |
ORPHA:35107 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Choroid plexus cyst, Neural tube defect, Pulmonary hyp... |
ORPHA:798 |
| Pelvis-Shoulder Dysplasia |
|
Waddling gait, Hydrocephalus, Hydranencephaly, Spina bifida |
ORPHA:2839 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Polyhydramnios, Cryptorchidism, Pulmonary artery stenosis, Spinal dysraphism, Restri... |
ORPHA:96334 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
| Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Aqueductal stenosis, Cryptorchidism, Partial agenesis of the corpus callosum, Hydr... |
OMIM:619512 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Fraser Syndrome 2 |
|
Respiratory failure, Oligohydramnios |
OMIM:617666 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Difficulty wal... |
ORPHA:268810 |
| Trisomy 17P |
|
Aortic valve stenosis, Hydrocephalus |
ORPHA:261290 |
| Hurler Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Hydrocephalus, Cardiomyopathy, Mitral reg... |
OMIM:607014 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia, Hypercapnia |
OMIM:601887 |
| Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Hyperactivity, Aggressive behavior, Cryptorchidism, Self-mutilation, Partial ag... |
OMIM:270400 |
| Monosomy 18Q |
|
Left-to-right shunt, Bilateral cryptorchidism, Congestive heart failure, Hydrocephalus, Choreoath... |
ORPHA:1600 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Hyperactivity, Polyhydramnios, Impulsivity, Respiratory tract infection, Bi... |
OMIM:180849 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:613150 |
| Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Polyhydramnios, Partial agenesis of the corpus callosum, Hydrocephalus, Tracheomalacia, Sp... |
OMIM:300373 |
| Osteogenesis Imperfecta |
|
Aortic regurgitation, Neonatal respiratory distress, Ataxia, Cerebral hemorrhage, Hydrocephalus, ... |
ORPHA:666 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Apnea, Cryptorchidism, Mitral regurgitation, Ventriculomegaly |
ORPHA:2462 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Heart murmur, Intracranial hemorrhage |
ORPHA:163979 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
| Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus |
ORPHA:2409 |
| Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly, Pulmonary hypoplasia |
ORPHA:1335 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Respira... |
OMIM:210710 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Transient ischemic attack, Edema, Polyhydramnios, Pericardial eff... |
ORPHA:51608 |
| X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation |
ORPHA:85290 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis |
ORPHA:210122 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... |
ORPHA:95455 |
| Desmosterolosis |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Total anomalous pulmonary venous return, ... |
OMIM:602398 |
| Endocrine-Cerebroosteodysplasia |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Ve... |
OMIM:612651 |
| Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Hydrocephalus, Tongue thrusting, Pulmonic stenosis, Hypertrophic cardiomyopathy |
OMIM:115150 |
| Cardiofaciocutaneous Syndrome |
|
Lymphedema, Cryptorchidism, Hydrocephalus, Excessive wrinkled skin, Pulmonic stenosis, Hypertroph... |
ORPHA:1340 |
| Icf Syndrome |
|
Communicating hydrocephalus, Recurrent respiratory infections |
ORPHA:2268 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Partial agenesis of the corpus c... |
OMIM:619895 |
| Yellow Fever |
|
Shock, Supraventricular arrhythmia, Hematemesis, Jaundice, Capillary leak, Reduced left ventricul... |
ORPHA:99829 |
| Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele |
OMIM:136140 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Hyperactivity, Abnormal lateral ventricle morphology, Pneumonia... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Hyperactivity, Abnormal lateral ventricle morphology, Pneumonia... |
ORPHA:353277 |
| Raine Syndrome |
|
Neonatal death, Death in infancy, Hydrocephalus, Pulmonary hypoplasia |
OMIM:259775 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Athetosis, Hydrocephalus |
OMIM:239300 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus |
OMIM:614886 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Polyhydramnios, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Holoprosenc... |
ORPHA:2166 |
| Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Dehydration, Int... |
OMIM:259900 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Hydrocephalus, Colpocephaly, Histiocytoid cardiomyopathy, Arrhyth... |
OMIM:309801 |
| Aicardi-Goutières Syndrome |
|
Cutis marmorata, Raynaud phenomenon, Chronic CSF lymphocytosis, Increased CSF interferon alpha, D... |
ORPHA:51 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block, Hydrocephalus |
OMIM:618590 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Aqueductal stenosis, Neonatal death, Tricuspid regurgitation, Portal hyper... |
OMIM:619534 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Cryptorchidism, Hydrocephalus |
OMIM:619951 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus |
OMIM:601499 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocele testis, Hydrocephalus, Spina bifida, Oligohydramnios |
OMIM:613776 |
| Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stil... |
OMIM:304120 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Cryptorchidism, Pneumothorax, Respiratory failure, Pulmonary hypoplasia, Ol... |
ORPHA:3404 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Ataxia |
ORPHA:2720 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum |
OMIM:264480 |
| Craniopharyngioma |
|
Hydrocephalus, Cerebral ischemia, Polyphagia, Myocardial infarction |
ORPHA:54595 |
| Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:609053 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Opitz-Kaveggia Syndrome |
|
Facial wrinkling, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Attenti... |
OMIM:305450 |
| 1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Attention deficit hyperactivity disorder |
ORPHA:250989 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Respiratory distress, Hyperactivity, Abnormal lung lobation, Tics, D... |
ORPHA:508488 |
| Genitopalatocardiac Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2075 |
| Mosaic Trisomy 1 |
|
Polyhydramnios, Increased nuchal translucency, Lateral ventricle dilatation, Pulmonary hypoplasia... |
ORPHA:1692 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:305100 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Pulmonary hypoplasia |
OMIM:313850 |
| Trisomy 8P |
|
Cryptorchidism, Hydrocephalus, Recurrent upper respiratory tract infections, Abnormal lung lobati... |
ORPHA:264450 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
| Meningioma |
|
Ataxia, Cerebral hemorrhage, Progressive pulmonary function impairment, Hydrocephalus, Abnormalit... |
ORPHA:2495 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Hydrocephalus, Abnormality of the pulmonary veins |
ORPHA:2306 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Neonatal respiratory distress, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:619479 |
| Von Hippel-Lindau Disease |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
ORPHA:892 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
| Iniencephaly |
|
Encephalocele, Polyhydramnios, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal... |
ORPHA:63259 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Oligohydramnios |
ORPHA:3016 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Floating-Harbor Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele |
ORPHA:2044 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Lateral Meningocele Syndrome |
|
Cryptorchidism, Hydrocephalus, Meningocele |
OMIM:130720 |
| Mend Syndrome |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Dandy-W... |
ORPHA:401973 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus, Ataxia |
ORPHA:65285 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Cryptorchidism, Lateral ventricle dilatation, Tip-toe gait, Attention deficit hype... |
OMIM:617557 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hydrocephalus, Myelomeningocele, Pulmonary hypoplasia |
ORPHA:90652 |
| Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Ataxia, Progeroid facial appear... |
OMIM:216400 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus, Telangiectasia of the skin |
OMIM:616007 |
| Stromme Syndrome |
|
Hydrocephalus, Stillbirth, Agenesis of corpus callosum |
OMIM:243605 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Cryptorchidism, Hydrocephalus, Meningoencephalocele, Dandy-Walker malfor... |
OMIM:236670 |
| Monosomy 9Q22.3 |
|
Hyperactivity, Hydrocephalus, Ventriculomegaly |
ORPHA:77301 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Dilated fourth ventricle, Ventriculomegaly, Cardiomyopathy, Difficulty walk... |
ORPHA:480880 |
| Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Cryptorchidism, Abnormal repetitive mannerisms, ... |
OMIM:615873 |
| Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Communicating hydrocephalus, Ataxia, Pneumonia, Mitral regurgitation |
ORPHA:309282 |
| Fetal Akinesia Deformation Sequence 1 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Cryptorchidism, Increased nuchal translucency, Hydroce... |
OMIM:208150 |
| Khan-Khan-Katsanis Syndrome |
|
Colpocephaly, Tricuspid regurgitation, Ventriculomegaly, Dysphagia |
OMIM:618460 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent scalp veins, Recurrent respiratory infections, Pre... |
OMIM:264090 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Ataxia, Progeroid facial appear... |
OMIM:133540 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Hydrocephalus, Holoprosencephaly, Cryptorchidism |
OMIM:147791 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Jaundice, Ataxia, Hypoglycorrhachia |
ORPHA:168577 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly |
ORPHA:457284 |
| Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Bruising susceptibility,... |
OMIM:227646 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Pericardial effusion, Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:1272 |
| Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... |
ORPHA:2388 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Minimal subcutaneous fat |
OMIM:182212 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Cryptorchidism, Hydrocephalu... |
OMIM:249000 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus, Unsteady gait, Dysphagia |
ORPHA:637 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
| Primary Hyperoxaluria |
|
Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermitten... |
ORPHA:416 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Lethargy, Hydrocephalus |
OMIM:277400 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Cardiomyopathy, Ataxia |
OMIM:616084 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Epistaxis, Polyhydramnios, Aggressive behavior, Cryptorchidism, Asth... |
OMIM:619841 |
| Mend Syndrome |
|
Hyperactivity, Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation |
OMIM:300960 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Cryptorchidism, Respiratory failure |
ORPHA:2636 |
| Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
| Noonan Syndrome 1 |
|
Hypogonadism, Cryptorchidism, Hypospadias, Male infertility |
OMIM:163950 |
| Aicardi Syndrome |
|
Spina bifida, Partial agenesis of the corpus callosum, Recurrent pneumonia, Choroid plexus cyst, ... |
OMIM:304050 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Myelomeningocele, Meningocele, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea, Oligohydramnios |
ORPHA:3206 |
| Osteoglophonic Dysplasia |
|
Respiratory distress, Cryptorchidism |
OMIM:166250 |
| Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Aggressive behavior, Cryptorchidism, Hydrocephalus, Dilated cardiom... |
OMIM:607872 |
| Apert Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:101200 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst, Oligohydramnios |
ORPHA:293725 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Hydrocephalus |
OMIM:101800 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Cryptorchidism, Pulmonary hypoplasia |
ORPHA:83617 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Palpebral edema, Cryptorchidism, Hydrocephalus, Attention deficit hypera... |
ORPHA:261337 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus |
OMIM:245600 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprose... |
OMIM:610828 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Inability to walk, Cryptorchidism, Colpocephaly, Ataxia |
OMIM:620083 |
| Yunis-Varon Syndrome |
|
Polyhydramnios, Cryptorchidism, Increased nuchal translucency, Hydrocephalus, Hydrops fetalis, Re... |
ORPHA:3472 |
| Doors Syndrome |
|
Respiratory distress, Polyhydramnios, Aspiration pneumonia, Spina bifida occulta, Dandy-Walker ma... |
ORPHA:79500 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Pulmonary artery stenosis, Pulmonic stenosis, Oligohydramnios |
ORPHA:2255 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Hydrocephalus |
OMIM:231005 |
| Neurooculorenal Syndrome |
|
Aqueductal stenosis, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Agen... |
OMIM:620305 |
| Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Sinusitis, Hydrocephalus, Mitral regurgitation, Pulmonic stenosis, Attentio... |
ORPHA:363700 |
| Cystinosis, Nephropathic |
|
Male infertility, Male hypogonadism |
OMIM:219800 |
| Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
| Hajdu-Cheney Syndrome |
|
Recurrent respiratory infections, Aortic valve stenosis, Mitral stenosis, Hydrocephalus |
ORPHA:955 |
| Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Arterial rupture, Joint... |
ORPHA:287 |
| Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Attention deficit hyperactivity disorder |
OMIM:614083 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation, Tricuspid regurgitation, Pulmonary hypoplasia, Hydrops fetalis |
OMIM:263520 |
| Meckel Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker ... |
ORPHA:564 |
| Fanconi Anemia |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Hypertrophic cardiomyopathy, Abnormal t... |
ORPHA:84 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Cryptorchidism, Dysplastic corpus callosum, Colpocephaly, Holoprosencephaly, Attention deficit hy... |
OMIM:618820 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Neonatal respiratory distress, Polyhydramnios, Cryptorchidism, Hydrocephalus, Abnormal lung lobat... |
OMIM:312870 |
| Marden-Walker Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Attention deficit hyperactivity disorder |
ORPHA:2461 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Waddling gait, Recurrent pneumonia, Respiratory distress, Ventriculomegaly |
ORPHA:99646 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus |
OMIM:104350 |
| Orofaciodigital Syndrome I |
|
Hypertension, Hydrocephalus, Myelomeningocele, Agenesis of corpus callosum |
OMIM:311200 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Polyhydramnios |
OMIM:617088 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Agenesis of corpus callosum |
ORPHA:1780 |
| Neurofibromatosis Type 1 |
|
Ataxia, Cryptorchidism, Hydrocephalus, Hypertension, Attention deficit hyperactivity disorder |
ORPHA:636 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Prematurely aged appearance |
ORPHA:2658 |
| Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Congestive heart failure, Hypertension, Lateral ventricle dilatation, Supraventr... |
OMIM:181270 |
| Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Angina pectoris, Ataxia, Lymphedema, Pericardial effusion, Ab... |
ORPHA:79318 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
| Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Hydrocephalus, Pulmonary hypoplasia |
OMIM:273395 |
| Kabuki Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:2322 |
| Acrofacial Dysostosis 1, Nager Type |
|
Urticaria, Hydrocephalus, Aqueductal stenosis |
OMIM:154400 |
| Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Abnormal lung lobation, Anencephaly, Stillbirth, Severe hydrocephalus, Agenesis o... |
OMIM:236680 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hypertension, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Kabuki Syndrome 1 |
|
Cryptorchidism, Hydrocephalus, Recurrent aspiration pneumonia, Lateral ventricle dilatation |
OMIM:147920 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:617011 |
| Coffin-Lowry Syndrome |
|
Mitral regurgitation, Acrocyanosis, Cutis marmorata, Ventriculomegaly |
OMIM:303600 |
| Alström Syndrome |
|
Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular fibrosis, Delayed menar... |
ORPHA:64 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Arrhythmia, Acrocyanosis, Apnea |
ORPHA:285 |
| Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Hydrocephalus, Death in infancy |
ORPHA:1106 |
| Fraser Syndrome 1 |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Myelomeningocele, Pulmonary hypoplasia |
OMIM:219000 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
| Loeys-Dietz Syndrome 2 |
|
Pulmonary artery aneurysm, Hydrocephalus, Spontaneous pneumothorax |
OMIM:610168 |
| Peters Plus Syndrome |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Spina bifida occulta, Abnormal pulmonary vein morp... |
ORPHA:709 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly, Difficulty walking, Gait ataxia |
ORPHA:457359 |
| Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly |
OMIM:301043 |
| Hajdu-Cheney Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:102500 |
| Holoprosencephaly 9 |
|
Holoprosencephaly, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:610829 |
| Genitopatellar Syndrome |
|
Polyhydramnios, Cryptorchidism, Colpocephaly, Pulmonary hypoplasia, Dysphagia, Agenesis of corpus... |
OMIM:606170 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation, Dysphagia |
OMIM:618367 |
| Wolf-Hirschhorn Syndrome |
|
Cryptorchidism, Hydrocephalus, Abnormal repetitive mannerisms, Agenesis of corpus callosum, Ventr... |
OMIM:194190 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent scalp veins, Ataxia, Increased subcutaneous trunca... |
ORPHA:3455 |
| Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
| 6Q Terminal Deletion Syndrome |
|
Colpocephaly, Dysmetria, Gait ataxia |
ORPHA:75857 |
| Pseudoaminopterin Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:221120 |
| Loeys-Dietz Syndrome 1 |
|
Pulmonary artery aneurysm, Hydrocephalus |
OMIM:609192 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Gait disturbance |
ORPHA:3042 |
| Split Cord Malformation |
|
Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele, Hydrom... |
ORPHA:573278 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Colpocephaly |
ORPHA:477993 |
| Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
| Focal Dermal Hypoplasia |
|
Cryptorchidism, Hydrocephalus, Myelomeningocele, Telangiectasia, Spina bifida occulta, Agenesis o... |
OMIM:305600 |
| Coffin-Siris Syndrome 12 |
|
Cryptorchidism, Abnormal repetitive mannerisms, Noncommunicating hydrocephalus, Heart murmur |
OMIM:619325 |
| Baller-Gerold Syndrome |
|
Spina bifida occulta, Hydrocephalus, Erythema, Agenesis of corpus callosum |
OMIM:218600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus, Decreased testicular size |
OMIM:619321 |
| Peters-Plus Syndrome |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Agenesis of corpus callosum, Ve... |
OMIM:261540 |
| Oeis Complex |
|
Cryptorchidism, Hydrocephalus, Myelomeningocele |
OMIM:258040 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Hypertension, Lateral ventricle dilatation, Oligohydramnios |
OMIM:300896 |
| Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Stillbirth |
OMIM:268300 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Pulmonary artery sling, Cryptorchidism, Inability to walk, Dysphagia, Hydrocele... |
ORPHA:261537 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Hydrocephalus, Retinal hemorrhage, Ischemic stroke, Corneal neovascularization |
OMIM:175780 |
| Exstrophy-Epispadias Complex |
|
Cryptorchidism, Hydrocephalus, Spina bifida |
ORPHA:322 |
| Townes-Brocks Syndrome 1 |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly |
OMIM:107480 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum, Pulmonary hypoplasia |
OMIM:164210 |
