Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia, Sensorineural hearing impairment |
ORPHA:94064 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
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 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, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
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 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
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 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
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 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Absent outer dy... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 17 |
|
Dextrocardia, Dynein arm defect of respiratory motile cilia, Situs inversus totalis, Bronchiectas... |
OMIM:614679 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchie... |
OMIM:611884 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia |
OMIM:261550 |
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 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Decreased ... |
OMIM:618063 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
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 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
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 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Double outlet right ventricle,... |
OMIM:618254 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Nasal polyposis, Dextrocardia, Situs inversus totalis, Bronchiec... |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 22 |
|
Neonatal respiratory distress, Nasal polyposis, Dextrocardia, Situs inversus totalis, Bronchiecta... |
OMIM:615444 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Ciliary Dyskinesia, Primary, 25 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Chronic pu... |
OMIM:615482 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou... |
OMIM:619607 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Ciliary Dyskinesia, Primary, 14 |
|
Neonatal respiratory distress, Absent inner dynein arms, Situs inversus totalis, Wheezing, Recurr... |
OMIM:613807 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Transposition of the great art... |
OMIM:314390 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Reduced forced expiratory volume in one second, Reduced respiratory ciliary beati... |
OMIM:618300 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Abdominal situs ambiguus, Productive cough, Situs... |
OMIM:617092 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia, Respiratory insufficiency |
ORPHA:1759 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Hydrocephalu... |
OMIM:609637 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia, ... |
OMIM:620032 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:300991 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Absent inner dynein arms, Situs inversus totalis, Absent outer dyn... |
OMIM:614874 |
Edinburgh Malformation Syndrome |
|
Death in infancy, Hydrocephalus |
OMIM:129850 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Wide nasal bridge, Dextrocardia, Depressed nasal tip |
ORPHA:2863 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Abnormal nasal morphology, Hydrocephalus, Abno... |
ORPHA:83473 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Decre... |
OMIM:612444 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Ciliary Dyskinesia, Primary, 28 |
|
Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Situs inversus tota... |
OMIM:615505 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Immot... |
OMIM:613193 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:616481 |
Congenital Hydrocephalus |
|
Bulbous nose, Hydrocephalus, Abnormal heart morphology, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... |
OMIM:615067 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Abdom... |
OMIM:605376 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chro... |
OMIM:614017 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Abnormal cardiac septum morphology, Tracheal atresia, Respiratory insufficiency |
OMIM:601612 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:615481 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Wide nasal bridge, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Death in childhood, Conve... |
OMIM:610333 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... |
OMIM:615451 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Chronic sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Abnormal resp... |
OMIM:612518 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology, Respira... |
OMIM:276950 |
Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:608644 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Situ... |
OMIM:613686 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Ciliary Dyskinesia, Primary, 12 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:612650 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Alexander Disease |
|
Death in infancy, Hydrocephalus, Death in adolescence, Death in childhood, Increased CSF protein ... |
OMIM:203450 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus |
OMIM:258320 |
Ciliary Dyskinesia, Primary, 26 |
|
Neonatal respiratory distress, Situs inversus totalis, Absent outer dynein arms, Decreased nasal ... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 15 |
|
Neonatal respiratory distress, Nasal polyposis, Situs inversus totalis, Wheezing, Recurrent pneum... |
OMIM:613808 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Anteverted nares |
OMIM:300884 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... |
ORPHA:52368 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Atrial situs ambiguous, Abnormal atrial arrangement, Nasal polypos... |
ORPHA:244 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Anteverted nares, Dextrocardia, Prominent nasal bridge, Apnea, Hydrocephalus, Abno... |
ORPHA:220493 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Dextrocardia, Secundum atrial septal defect, Asthma, Tachyp... |
ORPHA:2257 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Chronic co... |
OMIM:620197 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Death in infancy, Endocardial fibroelastosis |
OMIM:600559 |
Dextrocardia |
|
Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal heart morphology, Abnormality of ab... |
ORPHA:1666 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Anteverted nares |
ORPHA:1532 |
Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Immo... |
OMIM:614935 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, Spina bif... |
ORPHA:2437 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Tetralogy of Fallot |
ORPHA:250994 |
Ciliary Dyskinesia, Primary, 27 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:615504 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arterie... |
OMIM:306955 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Nasal polyposis, Situs inversus totalis, Recurrent pneumonia, Bron... |
OMIM:608647 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Hyposmia, Anosmia, Dextrocardia |
OMIM:615994 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Situs inversus totalis, Absent outer dyn... |
OMIM:244400 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningocele, Hydrocephalus, Respi... |
ORPHA:1914 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Hydrocephalus |
OMIM:619302 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Aortic valve ... |
OMIM:220220 |
Johanson-Blizzard Syndrome |
|
Death in infancy, Dextrocardia, Underdeveloped nasal alae, Abnormal cardiac septum morphology, Ab... |
ORPHA:2315 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
Meacham Syndrome |
|
Death in infancy, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextroc... |
OMIM:608978 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Sensorineural hearing impairment, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Short nose, Thic... |
ORPHA:163961 |
Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Left Isomerism, Situs inversus... |
OMIM:619702 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Wide nasal base, Wide nasal bridge |
OMIM:616521 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Hydrocephalus, Wide nasal bridge, Short nose, Ventriculomegaly |
OMIM:618577 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Wide nose, Long nose, Anomalous pulmonary venous return, Tetralogy o... |
ORPHA:2184 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Infantile Sialic Acid Storage Disease |
|
Anteverted nares, Cardiomegaly, Hydrocephalus, Death in childhood |
OMIM:269920 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... |
OMIM:264480 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul... |
OMIM:619657 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Choanal atresia |
OMIM:612247 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:1516 |
Scimitar Syndrome |
|
Respiratory distress, Ventricular septal defect, Dextrocardia, Mitral atresia, Pneumothorax, Part... |
ORPHA:185 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Wide nasal bridge |
OMIM:618302 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Depressed nasal bridge, Hydrocephalus, Double outlet right ventricle, ... |
OMIM:220210 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concen... |
OMIM:616034 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hydrocephalus, Respiratory insufficiency, Death in childhood, Left ventricular ... |
OMIM:613153 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy, Exaggerated sta... |
OMIM:616881 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Depressed nasal bridge, Hydrocephalus, Respiratory insufficiency, Holoprosencephal... |
ORPHA:93274 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Hydrocephalus, Respiratory insufficiency, Short nose |
ORPHA:1895 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Depressed nasal bridge, Tachypnea, Double outlet right ventricle, Hete... |
ORPHA:3426 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Renpenning Syndrome |
|
Heterotaxy, Broad columella, Prominent nose |
ORPHA:3242 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial septal defect, ... |
ORPHA:261197 |
Mosaic Trisomy 9 |
|
Ventriculomegaly, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina... |
ORPHA:99776 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short nose, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nose, Bulbous nose, Hydrocephalus, Wide nasal... |
ORPHA:2180 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Depressed nasal bridge, Dextrocardia |
OMIM:618929 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Postural tremor, Decreased fertility in female... |
ORPHA:79239 |
Marden-Walker Syndrome |
|
Anteverted nares, Dextrocardia, Dandy-Walker malformation |
OMIM:248700 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Hydrocephalus, Pulmonic stenosis, Hypertrophic cardiomyopathy, Short nose |
ORPHA:2701 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Inguinal hernia, Flexion contracture of finger, Shoulder flexion contracture, Ab... |
OMIM:193700 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Occipital encephalocele, Depressed nasal bridge, Hydrocephalus, Short nose |
OMIM:241800 |
3C Syndrome |
|
Death in infancy, Dandy-Walker malformation, Ventriculomegaly, Ventricular septal defect, Abnorma... |
ORPHA:7 |
Distal Duplication 5Q |
|
Short nose, Prominent nasal bridge, Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Cardiomegaly |
OMIM:300886 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia |
OMIM:613095 |
8P Inverted Duplication/Deletion Syndrome |
|
Anteverted nares, Dextrocardia, Wide nasal bridge, Abnormal heart morphology, Tetralogy of Fallot... |
ORPHA:96092 |
Joubert Syndrome |
|
Encephalocele, Anteverted nares, Apnea, Episodic tachypnea, Prominent nasal bridge, Situs inversu... |
ORPHA:475 |
Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation |
OMIM:147800 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Short columella, Short nose |
ORPHA:171839 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Convex nasal ridge, Choanal atresia, Respiratory insufficiency |
ORPHA:93262 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly, Cardiomegaly |
ORPHA:858 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Wide nasal bridge, Ventriculomegaly, Abnormal heart morphology |
OMIM:175700 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Wide nasal bridge |
ORPHA:380 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Hydrocephalus, Respiratory insufficiency, Atrial septal defect, Ventricul... |
ORPHA:2655 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Mitral valve prolapse |
ORPHA:2183 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus, Depressed nasal bridge, Dextrocardia |
ORPHA:1571 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary veno... |
OMIM:270100 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Cupped ear, Irregular menstruation, Amenorrhea |
OMIM:110100 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia |
ORPHA:3240 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... |
OMIM:618280 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Productive cough, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Nasal con... |
OMIM:615434 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Atrial septal defect, Tracheoesophageal fistula, Dextrocardia |
OMIM:277380 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Bulbous nose, Wide nasal bridge, Respiratory insufficiency |
ORPHA:1237 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Crouzon Syndrome |
|
Hydrocephalus, Convex nasal ridge, Choanal atresia, Respiratory insufficiency |
ORPHA:207 |
Bresek Syndrome |
|
Neonatal death, Hydrocephalus, Convex nasal ridge |
ORPHA:85284 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia involving the nose, Situs inversus totalis, Absent nares... |
ORPHA:990 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Wide nose, Secundum atrial septal defect, Situs inversus totalis, Holoprose... |
OMIM:202650 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Anteverted nares, Hydrocephalus, Death in childhood, Hypertrophic card... |
OMIM:612938 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Temple Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Hydrocephalus |
OMIM:616222 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Short nose, Depressed nasal ridge, Hydrocephalus |
ORPHA:163966 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure, Depressed nasal ridge |
ORPHA:1861 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Foot joint contracture, Scarring, Tremor, Cryptorchidism, Op... |
ORPHA:90321 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Fraser Syndrome 3 |
|
Wide nose, Convex nasal ridge, Hydrocephalus, Stillbirth, Tracheal atresia |
OMIM:617667 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Metatropic Dysplasia |
|
Hydrocephalus, Depressed nasal bridge |
ORPHA:2635 |
Adams-Oliver Syndrome 2 |
|
Bulbous nose, Depressed nasal bridge, Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal anatomic... |
ORPHA:2461 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Bulbous nose, Hydrocephalus, Colpocephaly, Atrial septal defect, Ven... |
OMIM:615219 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Boomerang Dysplasia |
|
Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:112310 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Ventricular septal defect, Anteverted nares, Proboscis, Alobar holoprosencephal... |
OMIM:619895 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Low hanging columella, Wide nasal bridge, Broad nasal tip |
OMIM:620157 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Rhombencephalosynapsis |
|
Anteverted nares, Hydrocephalus, Tracheoesophageal fistula, Short nose, Ventriculomegaly |
ORPHA:59315 |
Neurooculorenal Syndrome |
|
Dextrocardia, Aqueductal stenosis, Hydrocephalus, Mitral valve prolapse, Tetralogy of Fallot with... |
OMIM:620305 |
Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Anteverted nares, Depressed nasal bridge, Pericardial effusion, Hydrocephalus, ... |
OMIM:617822 |
Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Respiratory insufficiency, Endocardial fibroelastosis |
ORPHA:2119 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Anteverted nares, Hydrocephalus, Dysplastic tricuspid valve, Mitral valve p... |
OMIM:612863 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Short nose, Depressed nasal ridge, Hydrocephalus |
OMIM:300863 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Emanuel Syndrome |
|
Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Hydrocephalus, Pulmonic stenosis... |
OMIM:609029 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Coach Syndrome 2 |
|
Hydrocephalus, Apneic episodes in infancy |
OMIM:619111 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Anteverted nares, Ventriculomegaly |
OMIM:616362 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Ventriculomegaly, Broad nasal tip |
OMIM:609757 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Hydrolethalus |
|
Hydrocephalus, Anencephaly, Tracheal atresia, Abnormality of the sense of smell |
ORPHA:2189 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Inspiratory stridor |
OMIM:207950 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Miscarriage, Hydrocephalus, Wide nasal bridge, Respiratory insufficiency, Abnormal... |
ORPHA:1865 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction |
ORPHA:206448 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus... |
ORPHA:93259 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominent nose, Hydrocephalus, Wide nasal bridge, Atrial septal defect, Double outlet right ventr... |
OMIM:614886 |
Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia |
OMIM:614294 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Hydrocephalus, Colpocephaly, Short nose, Ventriculomegaly |
OMIM:619833 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:218350 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly, Ventricular septal defect, Tracheoesophageal fistula |
ORPHA:77298 |
Trisomy 17P |
|
Wide nose, Prominent nose, Hydrocephalus, Hypoplastic left heart, Aortic valve stenosis, Thick na... |
ORPHA:261290 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Hydrocephalus, Atrioventricular canal defect, Short nasal bridge, Convex nasal r... |
ORPHA:2409 |
Thanatophoric Dysplasia Type 1 |
|
Depressed nasal bridge, Hydrocephalus, Respiratory insufficiency, Atrial septal defect, Ventricul... |
ORPHA:1860 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Tenorio Syndrome |
|
Wide nose, Anteverted nares, Apnea, Hydrocephalus, Recurrent pneumonia, Ventriculomegaly |
OMIM:616260 |
Achondroplasia |
|
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Hypoxemia, Restrictive ventilatory defec... |
ORPHA:15 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Ventriculo... |
OMIM:300514 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Abnormal pinna morphology, Abnormal auditor... |
OMIM:216400 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Hydrocephalus, Atrial septal defect, Tetralogy... |
OMIM:612582 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Anteverted nares, Apnea, Prominent nasal bridge, Hydrocephalus, Tachypnea |
ORPHA:2318 |
Gorlin Syndrome |
|
Hydrocephalus, Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cor triatriatum, Ventricular septal defect, Dextrocardia, Anteverted nares, Depressed nasal bridg... |
OMIM:619534 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Anteverted nares, Prominent nasal bridge, Apnea, Hydrocephalus, Abnormal pattern o... |
ORPHA:220497 |
Emanuel Syndrome |
|
Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Hydrocephalus, Pulmonic stenosis... |
ORPHA:96170 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Depressed nasal bridge, Hydrocephalus, Respiratory failure, ... |
OMIM:616482 |
B4Galt1-Cdg |
|
Hydrocephalus, Wide nasal bridge, Dandy-Walker malformation |
ORPHA:79332 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Ventricular septal defect, Bulbous nose, Tracheoes... |
ORPHA:1780 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:615630 |
Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose |
OMIM:101600 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus, Bulbous nose, Anteverted nares, Wide nasal bridge |
OMIM:619320 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Upper airway obstruction, Choanal stenosi... |
OMIM:207410 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Ventriculomegaly |
OMIM:614576 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Dandy-Walker ... |
ORPHA:459061 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Apnea, Abnormal heart valve morphology, Depressed nasal bridge, Abnormal nasal morphol... |
ORPHA:579 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Hydrocephalus |
ORPHA:163596 |
Trisomy 1Q |
|
Wide nose, Depressed nasal bridge, Ventricular septal defect, Hydrocephalus, Ventriculomegaly |
ORPHA:261344 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Prominent nasal bridge, Hydrocephalus, Meningocele, Dan... |
OMIM:614424 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly |
ORPHA:370959 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:603387 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim... |
OMIM:619608 |
Laurin-Sandrow Syndrome |
|
Underdeveloped nasal alae, Abnormality of the nose, Prominent nose, Hydrocephalus, Depressed nasa... |
ORPHA:2378 |
Diabetic Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Spinal dysraphism, Transposition of the great arteries,... |
ORPHA:1926 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Ectopia cordis, Anencephaly, Transposition of the great arteries |
OMIM:313850 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus, Wide nasal bridge, Abnormal heart morphology |
OMIM:601499 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Depressed nasal bridge, Choanal atresia, Spina bifida, ... |
ORPHA:2369 |
Hurler Syndrome |
|
Death in infancy, Abnormal heart valve morphology, Anteverted nares, Depressed nasal bridge, Hydr... |
ORPHA:93473 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Tetrasomy 9P |
|
Pericarditis, Dextrocardia, Bulbous nose, Hydrocephalus, Abnormal cardiac septum morphology, Abno... |
ORPHA:3310 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Low insertion of columella, Narrow nar... |
OMIM:616145 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Rabin-Pappas Syndrome |
|
Hypoventilation, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Tracheomalacia, Low hanging c... |
OMIM:620155 |
Myopathy, Centronuclear, X-Linked |
|
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Hydrocephalus,... |
OMIM:310400 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Tetrasomy 5P |
|
Respiratory distress, Anteverted nares, Hydrocephalus, Wide nasal bridge, Pulmonary arterial hype... |
ORPHA:3309 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Broad nasal tip, Hydrocephalus, Wide nasal bridge, Abnormal heart morphology, Short nose |
OMIM:239300 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Broad nasal tip, Bifid nasal tip... |
OMIM:300166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Respiratory insufficie... |
OMIM:253800 |
Pontocerebellar Hypoplasia, Type 7 |
|
Apnea, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Ventriculomegaly |
OMIM:614969 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Neonatal respiratory distress, Hydrocephalus |
OMIM:187600 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Depressed nasal bridge, Ventriculomegaly |
ORPHA:60040 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hydrocele t... |
ORPHA:79330 |
Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
Carpenter Syndrome 2 |
|
Anteverted nares, Dextrocardia, Depressed nasal bridge, Situs inversus totalis, Wide nasal bridge... |
OMIM:614976 |
Pettigrew Syndrome |
|
Prominent nose, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly |
OMIM:304340 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Triploidy |
|
Hydrocephalus, Abnormal cardiac septum morphology, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Hydrocephalus, Depressed nasal bridge, Prominent nasal bridge |
OMIM:619951 |
Holoprosencephaly 7 |
|
Flat nasal alae, Alobar holoprosencephaly, Hydrocephalus, Absent nasal septal cartilage, Wide nas... |
OMIM:610828 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Depressed nasal bridge, Prominent nose, Secundum atrial septal de... |
ORPHA:1600 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Pulmonic st... |
OMIM:257300 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Genitopalatocardiac Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Wide nasal bridge |
ORPHA:2075 |
Tetraamelia-Multiple Malformations Syndrome |
|
Tracheal stenosis, Aplasia/Hypoplasia involving the nose, Hydrocephalus |
ORPHA:3301 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, Hydrocephalus, Mitral ... |
OMIM:616914 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Abnormal pinna morphology, Abnormal auditory evoked potentia... |
OMIM:133540 |
Fg Syndrome Type 1 |
|
Choanal atresia, Prominent nose, Hydrocephalus, Mitral valve prolapse, Atrial septal defect, Pulm... |
ORPHA:93932 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Bifid nose, Tracheomalacia |
ORPHA:268249 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares |
ORPHA:1064 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Anteverted nares, Choanal atresia, Depressed nasal bridge, Prominent nasal ... |
OMIM:123790 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Anteverted nares, Abnormal cardiac ventricle morphology, Hydrocephalus, Co... |
ORPHA:2306 |
Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Hydrocephalus, Anteverted nares, Ventriculomegaly |
OMIM:272200 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Holoprosencephaly |
|
Encephalocele, Aplasia/Hypoplasia involving the nose, Ventricular septal defect, Choanal atresia,... |
ORPHA:2162 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Stromme Syndrome |
|
Prominent nasal bridge, Hydrocephalus, Wide nasal bridge, Short columella, Stillbirth |
OMIM:243605 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Depressed nasal bridge, Anteverted nares, Choanal atresia, Hydrocephalus |
ORPHA:1555 |
Congenital Myopathy 22A, Classic |
|
Neonatal death, Normal pressure hydrocephalus, Wide nasal bridge, Respiratory insufficiency |
OMIM:620351 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Depressed nasal bridge, Hydrocephalus, Upper airway obstr... |
OMIM:100800 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bulbous nose, Hydrocephalus, Narrow nasal ridge |
OMIM:612940 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Choanal atresia, Tracheal stenosis, Underdeveloped nasal alae, Hydroce... |
ORPHA:163979 |
Peho Syndrome |
|
Short nose, Anteverted nares, Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Depressed nasal bridge, Wide nasal bridge, Mitral valve prolapse |
OMIM:104350 |
Hurler Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Card... |
OMIM:607014 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Abnormal nasal bridge morphology, Bicuspid aortic valve, Dextrocardia |
ORPHA:536545 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Hydrocephalus, Total anomalous pulmonary venous retur... |
OMIM:602398 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly |
ORPHA:238769 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Anencep... |
ORPHA:1335 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Recurrent upper respiratory tract infections, Ventriculomegaly, Dandy-Walker malfo... |
OMIM:217090 |
Apert Syndrome |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Respiratory insufficiency, Convex nasal r... |
ORPHA:87 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:219730 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic neuropathy, Decreas... |
ORPHA:909 |
Desmosterolosis |
|
Depressed nasal bridge, Abnormality of the nose, Hydrocephalus, Anomalous pulmonary venous return... |
ORPHA:35107 |
Joubert Syndrome 2 |
|
Central apnea, Encephalocele, Enlarged fossa interpeduncularis, Depressed nasal bridge, Episodic ... |
OMIM:608091 |
Multiple Sulfatase Deficiency |
|
Depressed nasal bridge, Anteverted nares, Hydrocephalus |
ORPHA:585 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Low-set ears, Macroorchidism |
ORPHA:8 |
Marshall-Smith Syndrome |
|
Apnea, Ventricular septal defect, Choanal atresia, Anteverted nares, Dysplastic aortic valve, Dep... |
OMIM:602535 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Long nose, Short nose, Depressed nasal bridge, Hydrocephalus |
OMIM:618590 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Short nose, Depressed nasal bridge, Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology |
ORPHA:398124 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Bulbous nose, Ventriculomegaly, Dandy-Walker malformation |
OMIM:618476 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Prominent nose |
OMIM:617281 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Raine Syndrome |
|
Death in infancy, Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Neona... |
OMIM:259775 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Wide nasal bridge, Short columella, Short nose, Ventriculomegaly |
OMIM:613603 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Chromosome 17P13.1 Deletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Spina bifida, Bulbous nose, Hyd... |
OMIM:613776 |
Mucopolysaccharidosis, Type Ii |
|
Abnormal heart valve morphology, Asthma, Recurrent pneumonia, Hydrocephalus, Tracheobronchomalaci... |
OMIM:309900 |
Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Hydrocephalus |
OMIM:259710 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Anteverted nares, Prominent nasal bridge, Apnea, Hydrocephalus, Abnormal... |
ORPHA:1454 |
Adams-Oliver Syndrome |
|
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Pulmonary arterial hypertensio... |
ORPHA:974 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares, Wide... |
OMIM:618188 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Anteverted nares, Prominent nasal bridge, Proboscis, Hydrocephal... |
OMIM:605627 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Bulbous nose, Hydrocephalus, Pulmonic stenosis, Atrial ... |
OMIM:115150 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Pulmoni... |
ORPHA:1340 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Meningocele, Short nasal bridge |
OMIM:130720 |
Whipple Disease |
|
Pericarditis, Myocarditis, Hydrocephalus, Respiratory insufficiency, Cough |
ORPHA:3452 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocard... |
OMIM:261740 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus, Anteverted nares |
ORPHA:2969 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Hydrocephalus, Abnormal heart morphology, Stridor, Atrial septal defect, Pu... |
ORPHA:505248 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Tracheoesophageal fistula |
ORPHA:1834 |
Diets-Jongmans Syndrome |
|
Heterotaxy, Low hanging columella, Ventricular septal defect, Broad nasal tip |
OMIM:618846 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Mitral stenosis |
OMIM:231005 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Respiratory insufficiency due to muscle weakness, Hydrocephalus |
OMIM:615249 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Dand... |
OMIM:613001 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningocele, ... |
OMIM:616546 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Hydrocephalus, Anencephaly, Respiratory insufficiency, Holoprosencepha... |
OMIM:269860 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Restrictive Dermopathy |
|
Aplasia/Hypoplasia involving the nose, Dextrocardia, Choanal atresia, Transposition of the great ... |
ORPHA:1662 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Depressed nasal bridge, Abnormal heart valve morphology, Myelomeningocele, Hydroce... |
ORPHA:90652 |
Poland Syndrome |
|
Atrial septal defect, Encephalocele, Spina bifida occulta, Dextrocardia |
ORPHA:2911 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Ventriculomegaly, Hydrocephalus, Death in childhood, Dandy-Walke... |
OMIM:614643 |
Crouzon Syndrome |
|
Hydrocephalus, Deviated nasal septum |
OMIM:123500 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Depressed nasal bridge, Cardiomegaly, Hydrocephalus, Mitral valve prolapse... |
OMIM:245600 |
Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus |
OMIM:602361 |
Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Hydrocephalus, Recurrent upper respiratory tract infections, Car... |
OMIM:253220 |
Jacobsen Syndrome |
|
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Hydrocephalus, Holoprosencep... |
OMIM:147791 |
Mohr Syndrome |
|
Bifid nasal tip, Hydrocephalus, Depressed nasal bridge, Broad nasal tip |
OMIM:252100 |
Distal Triplication 15Q |
|
Atrial septal defect, Hydrocephalus, Dandy-Walker malformation, Abnormal heart morphology |
ORPHA:314588 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium m... |
ORPHA:228308 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Anteverted nares, Repeated pneumothoraces, Depressed nasal bridge, Hydrocep... |
ORPHA:536467 |
Mucopolysaccharidosis, Type Vi |
|
Depressed nasal bridge, Pneumonia, Hydrocephalus, Recurrent upper respiratory tract infections, R... |
OMIM:253200 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Bulbous nose, Abnormal cardiac septum morphology, Wide nasal bridge |
ORPHA:250989 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus, Abnormal heart morphology |
ORPHA:93400 |
Trisomy 8P |
|
Anteverted nares, Abnormal atrioventricular connection, Depressed nasal bridge, Hydrocephalus, Re... |
ORPHA:264450 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Short nose, Depressed nasal bridge, Hydrocephalus, Underdeveloped nasal alae |
OMIM:616007 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Asthma, Dilated third ventricle, Hydrocephalus, Ventriculomegaly |
ORPHA:500055 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Hydrocephalus, Asthma, Allergic rhinitis |
OMIM:618162 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Prominent nasal bridge, U... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Prominent nasal bridge, U... |
ORPHA:363958 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
Apert Syndrome |
|
Overriding aorta, Depressed nasal bridge, Ventricular septal defect, Choanal atresia, Hydrocephal... |
OMIM:101200 |
Icf Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge |
ORPHA:2268 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Death in chil... |
OMIM:612301 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, Ventricular septal defect, Hydrocephalus, Lateral ventricle dilatation, D... |
OMIM:619575 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Hydrocephalus, Upper airway obstruction, Abnormal aortic valve morphol... |
ORPHA:581 |
7Q11.23 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Broad nasal tip, Hydrocephalus, Abnormal columel... |
ORPHA:96121 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:899 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Broad nasal tip |
OMIM:101800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Stillbirth, Hydrocephalus, Ventriculomegaly |
OMIM:259720 |
Meckel Syndrome |
|
Encephalocele, Situs inversus totalis, Hydrocephalus, Depressed nasal ridge, Anencephaly, Lobar h... |
ORPHA:564 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Abnormal cardiac septum morphology, Absent nares, Holoprosencephaly |
ORPHA:2166 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Stillbirth, Midli... |
OMIM:236680 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Wide nasal bridge, Tracheoesophageal fistula, Depressed nasal tip |
OMIM:614083 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Mend Syndrome |
|
Cryptorchidism, Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Capillary Malformation-Arteriovenous Malformation |
|
Chylothorax, Hydrocephalus, Epistaxis, Abnormal heart morphology |
ORPHA:137667 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Narrow nasal ridge, Aqueductal stenosis, Bulbous nose, Hydrocephalus, Atrial septal defect, Low h... |
OMIM:619512 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Opitz-Kaveggia Syndrome |
|
Hydrocephalus, Prominent nose, Choanal atresia, Abnormal heart morphology |
OMIM:305450 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Tracheoesophageal fistula, Spina bifida |
ORPHA:3412 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Apnea, Mitral valve prolapse, Abnormal aortic valv... |
ORPHA:2462 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Aymé-Gripp Syndrome |
|
Pericarditis, Depressed nasal bridge, Pericardial effusion, Hydrocephalus, Short nose, Ventriculo... |
ORPHA:1272 |
15Q Overgrowth Syndrome |
|
Pulmonary arterial hypertension, Hydrocephalus, Wide nasal bridge, Dandy-Walker malformation |
ORPHA:314585 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Choanal atresia, Prominent nasal ... |
ORPHA:567 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Atrial septal defect, Bicuspid aortic valve, Depressed nasal bridge, Hydrocepha... |
OMIM:612289 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Neonatal respiratory distress, Hydrocephalus |
ORPHA:157 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Short nose, Cardiac fibroma, Ventriculomegaly |
ORPHA:77301 |
Costello Syndrome |
|
Atrial septal defect, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Hydroc... |
OMIM:218040 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pl... |
ORPHA:228123 |
Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Ventricular septal defect, Apnea, Hydrocephalus, Wide nasal bridge, Tracheo... |
OMIM:300373 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Apnea, Ventriculomegaly |
ORPHA:395 |
Fraser Syndrome 1 |
|
Encephalocele, Wide nose, Cleft ala nasi, Depressed nasal bridge, Underdeveloped nasal alae, Myel... |
OMIM:219000 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus, Anteverted nares, Mitral valve prolapse |
OMIM:182212 |
Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Hydrocephalus, Wide nasal bridge, Cardiac fibroma, Cardiac rhabdomyoma |
OMIM:109400 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Depressed nasal bridge, Spina bifida,... |
OMIM:114290 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
Semilobar Holoprosencephaly |
|
Central apnea, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Abnormal heart morp... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Abnormal heart morp... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Abnormal heart morp... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Abnormal heart morp... |
ORPHA:93924 |
Lymphangioleiomyomatosis |
|
Dyspnea, Hydrocephalus, Pneumothorax, Chylopericardium, Restrictive ventilatory defect, Chylothor... |
ORPHA:538 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Ventricular septal defect, Anteverted nares, Prominent nose, Muscular ventricul... |
OMIM:210710 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
H Syndrome |
|
Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Chronic rhinitis |
ORPHA:168569 |
Gaucher Disease |
|
Death in infancy, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardi... |
ORPHA:355 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Wide nose, Abnormal mitral valve morphology, Abnormal heart valve mo... |
ORPHA:580 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Wide nose, Dyspnea, Hydrocephalus, Dilated cardiomyopathy, Wide nasal bridg... |
ORPHA:2556 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Female infertility, External ear malformation, Secondary amenorr... |
ORPHA:99413 |
Turner Syndrome |
|
Premature ovarian insufficiency, Female infertility, External ear malformation, Secondary amenorr... |
ORPHA:881 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Female infertility, External ear malformation, Secondary amenorr... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Female infertility, External ear malformation, Secondary amenorr... |
ORPHA:99226 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Mirage Syndrome |
|
Hydrocephalus, Aspiration pneumonia |
OMIM:617053 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Constricting Bands, Congenital |
|
Encephalocele, Ectopia cordis |
OMIM:217100 |
Fanconi Anemia |
|
Choanal atresia, Spina bifida, Hydrocephalus, Tracheoesophageal fistula, Abnormal cardiac septum ... |
ORPHA:84 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hydrocephalus, Colpocephaly, Atrial septal defect, H... |
OMIM:309801 |
Dubowitz Syndrome |
|
Depressed nasal bridge, Asthma, Hydrocephalus, Respiratory insufficiency, Spina bifida occulta |
ORPHA:235 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Depressed nasal bridge, Choanal atresia, Bulbous nose, Hydrocephalus, Stillbirth, Choanal stenosi... |
ORPHA:95699 |
Mend Syndrome |
|
Prominent nasal bridge, Bulbous nose, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malforma... |
OMIM:300960 |
Distal 22Q11.2 Microduplication Syndrome |
|
Wide nose, Ventricular septal defect, Bulbous nose, Hydrocephalus, Depressed nasal ridge, Tricusp... |
ORPHA:261337 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart m... |
ORPHA:79282 |
Hajdu-Cheney Syndrome |
|
Wide nose, Ventricular septal defect, Mitral stenosis, Anteverted nares, Hydrocephalus, Wide nasa... |
ORPHA:955 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Orofaciodigital Syndrome I |
|
Underdeveloped nasal alae, Hydrocephalus, Myelomeningocele, Wide nasal bridge, Abnormal heart mor... |
OMIM:311200 |
Floating-Harbor Syndrome |
|
Prominent nasal bridge, Prominent nose, Underdeveloped nasal alae, Bulbous nose, Atrial septal de... |
OMIM:136140 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Hearing impairment |
OMIM:227650 |
Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency |
ORPHA:58 |
Osteootohepatoenteric Syndrome |
|
Asthma, Hydrocephalus |
OMIM:619377 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion |
ORPHA:1546 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Hydrocepha... |
OMIM:270400 |
Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Tracheoesophageal fistula, Abnormal heart morphology |
OMIM:227646 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus |
ORPHA:300570 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Prominent nasal bridge, Aqueductal stenosis, Hydrocephalus, Tetralogy ... |
OMIM:154400 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Tachypnea, Cough |
ORPHA:137675 |
Hajdu-Cheney Syndrome |
|
Wide nose, Anteverted nares, Ventricular septal defect, Hydrocephalus |
OMIM:102500 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ... |
OMIM:249000 |
Kabuki Syndrome |
|
Short columella, Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly |
ORPHA:2322 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Ventricu... |
OMIM:236670 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Bulbous nose, Hydrocephalus, ... |
OMIM:619475 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Anteverted nares, Ventriculomegaly |
ORPHA:457284 |
Floating-Harbor Syndrome |
|
Narrow nasal bridge, Broad nasal tip, Long nose, Tetralogy of Fallot, Atrial septal defect, Mesoc... |
ORPHA:2044 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Autosomal Recessive Malignant Osteopetrosis |
|
Apnea, Abnormal pulmonary valve morphology, Hydrocephalus, Chronic rhinitis, Pulmonary arterial h... |
ORPHA:667 |
Sturge-Weber Syndrome |
|
Hydrocephalus, Pulmonary embolism |
ORPHA:3205 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Cardiomyopathy |
OMIM:616084 |
Craniopharyngioma |
|
Hydrocephalus, Abnormal nasal bone morphology |
ORPHA:54595 |
Holoprosencephaly 9 |
|
Hydrocephalus, Depressed nasal bridge, Single naris, Holoprosencephaly |
OMIM:610829 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Hydroce... |
ORPHA:2072 |
Peters Plus Syndrome |
|
Anteverted nares, Depressed nasal bridge, Hydrocephalus, Bicuspid pulmonary valve, Abnormal cardi... |
ORPHA:709 |
Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Prominent nasal bridge, Epistaxis, Depressed nasal... |
OMIM:619841 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal b... |
OMIM:607872 |
Coffin-Siris Syndrome 12 |
|
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Bulb... |
OMIM:619325 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Yunis-Varon Syndrome |
|
Narrow nasal base, Ventricular septal defect, Anteverted nares, Cardiomegaly, Hydrocephalus, Card... |
ORPHA:3472 |
Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Neonatal respiratory distress, Hydrocephalus, Noncommunicating h... |
ORPHA:666 |
Microphthalmia With Limb Anomalies |
|
Death in infancy, Hydrocephalus, Depressed nasal bridge |
ORPHA:1106 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
Pseudoaminopterin Syndrome |
|
Hydrocephalus, Patent foramen ovale, Prominent nasal bridge |
ORPHA:221120 |
Wiedemann-Rautenstrauch Syndrome |
|
Anteverted nares, Pneumonia, Depressed nasal bridge, Narrow nasal ridge, Secundum atrial septal d... |
OMIM:264090 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Prominent nasal bridge, Ventriculomegaly |
OMIM:617011 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prol... |
ORPHA:363700 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus, Single naris, Choanal atresia |
OMIM:273395 |
Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus, Stillbirth, Depressed nasal tip |
OMIM:208150 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Depressed nasal bridge, Pneumonia |
ORPHA:309282 |
Baller-Gerold Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Hydrocephalus, Abnormal heart morphology, Conc... |
OMIM:218600 |
Meningioma |
|
Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pulmonary function testi... |
ORPHA:2495 |
Kabuki Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Lateral ventric... |
OMIM:147920 |
Otopalatodigital Syndrome, Type Ii |
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Depressed nasal bridge, Spina bifida, Hydrocephalus, Respiratory insufficiency, Respiratory failu... |
OMIM:304120 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Hydrocephalus, Short nose, Convex nasal ridge |
OMIM:619321 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Male infertility, Low-set, posteriorly rotated ears, Streak ovary, Unilateral cryptorchidism, Bil... |
ORPHA:1772 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Neonatal respiratory distress, Ventricular septal defect, Anteverted nares, Depressed nasal bridg... |
OMIM:312870 |
Lenz-Majewski Hyperostotic Dwarfism |
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Hydrocephalus, Choanal atresia |
ORPHA:2658 |
Loeys-Dietz Syndrome 1 |
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Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial sep... |
OMIM:609192 |
Wolf-Hirschhorn Syndrome |
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Ventricular septal defect, Hydrocephalus, Wide nasal bridge, Atrial septal defect, Convex nasal r... |
OMIM:194190 |
Townes-Brocks Syndrome 1 |
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Ventricular septal defect, Choanal atresia, Hydrocephalus, Tracheoesophageal fistula, Holoprosenc... |
OMIM:107480 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
Neurofibromatosis, Type I |
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Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Prominent nasal bridge, Ventriculomegaly |
ORPHA:457359 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hydrocephalus, Short nasal bridge, Ventriculomegaly |
OMIM:253280 |
Focal Dermal Hypoplasia |
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Narrow nasal bridge, Cleft ala nasi, Broad nasal tip, Hydrocephalus, Myelomeningocele, Spina bifi... |
OMIM:305600 |
Roberts-Sc Phocomelia Syndrome |
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Ventricular septal defect, Underdeveloped nasal alae, Hydrocephalus, Frontal encephalocele, Wide ... |
OMIM:268300 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Hydrocephalus |
ORPHA:91350 |
Hypoplasminogenemia |
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Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Loeys-Dietz Syndrome 2 |
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Bicuspid aortic valve, Spontaneous pneumothorax, Hydrocephalus, Bicuspid pulmonary valve, Mitral ... |
OMIM:610168 |
Full Nf2-Related Schwannomatosis |
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Myelopathy, Hydrocephalus |
ORPHA:637 |
Tuberous Sclerosis Complex |
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Respiratory distress, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Respiratory failure, S... |
ORPHA:805 |
Wiedemann-Rautenstrauch Syndrome |
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Anteverted nares, Wide nasal ridge, Convex nasal ridge, Congenital malformation of the left heart... |
ORPHA:3455 |
Split Cord Malformation |
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Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Peters-Plus Syndrome |
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Ventricular septal defect, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Ventriculomegaly |
OMIM:261540 |
Oeis Complex |
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Myelomeningocele, Hydrocephalus |
OMIM:258040 |
Neurofibromatosis Type 1 |
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Hydrocephalus |
ORPHA:636 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hydrocephalus |
ORPHA:3042 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hydrocephalus |
OMIM:175780 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:164210 |