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 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
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 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility |
OMIM:619009 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
Hyperprolactinemia |
|
Oligomenorrhea, Female infertility, Menorrhagia |
OMIM:615555 |
Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:620548 |
Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility |
OMIM:617442 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
Premature Ovarian Failure 6 |
|
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ... |
OMIM:612310 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation |
OMIM:615925 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Ovarian Dysgenesis 3 |
|
Female infertility, Primary amenorrhea |
OMIM:614324 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... |
ORPHA:261529 |
Subependymal Nodular Heterotopia |
|
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele |
ORPHA:101030 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Schisis Association |
|
Anencephaly, Encephalocele, Spina bifida |
ORPHA:63862 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida |
OMIM:207950 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Delirium, Memory impairment, Irritability, Dementia |
OMIM:614116 |
Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly |
ORPHA:1908 |
Meckel Syndrome, Type 4 |
|
Hydrocephalus, Meningocele, Anencephaly, Encephalocele |
OMIM:611134 |
Meckel Syndrome, Type 2 |
|
Meningocele, Anencephaly, Encephalocele |
OMIM:603194 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Spina bifida |
OMIM:620439 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Sirenomelia |
|
Sirenomelia, Spina bifida |
ORPHA:3169 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea |
OMIM:110100 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida |
ORPHA:1327 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Spina bifida, Hydrocephalus |
ORPHA:2437 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Male infertility |
ORPHA:244 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Triploidy |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:3376 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Joubert Syndrome 14 |
|
Hydrocephalus, Meningocele, Encephalocele |
OMIM:614424 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Spina bifida occulta, Meningocele, Umbilical hernia |
ORPHA:2311 |
Sacral Defect With Anterior Meningocele |
|
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Fliedner-Zweier Syndrome |
|
Meningocele |
OMIM:620511 |
Iniencephaly |
|
Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holoprosencephal... |
ORPHA:63259 |
Aromatase Deficiency |
|
Female infertility, Hypergonadotropic hypogonadism, Male infertility, Primary amenorrhea |
ORPHA:91 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Hydranencephaly, Spina bifida |
ORPHA:2839 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Hydranencephaly, Spina bifida, Meningocele |
ORPHA:1393 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Encephalocele |
ORPHA:1827 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Female infertility, Streak ovary, Decreased fertility, Oligomenorrhea, Premature ovarian insuffic... |
ORPHA:572333 |
Lateral Meningocele Syndrome |
|
Meningocele, Umbilical hernia |
ORPHA:2789 |
Lateral Meningocele Syndrome |
|
Meningocele, Hydrocephalus, Umbilical hernia |
OMIM:130720 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Neu-Laxova Syndrome 2 |
|
Spina bifida |
OMIM:616038 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Spina bifida, Umbilical hernia |
OMIM:613776 |
Trisomy 20P |
|
Spina bifida, Umbilical hernia |
ORPHA:261318 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Spina bifida |
ORPHA:3412 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Occipital encephalocele |
ORPHA:397715 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Limb Body Wall Complex |
|
Myelomeningocele, Encephalocele, Short umbilical cord, Spina bifida, Hydrocephalus, Spina bifida ... |
ORPHA:2369 |
Mosaic Trisomy 9 |
|
Spina bifida |
ORPHA:99776 |
Trisomy 18 |
|
Holoprosencephaly, Anencephaly, Spina bifida |
ORPHA:3380 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Lathosterolosis |
|
Meningocele |
ORPHA:46059 |
Pagod Syndrome |
|
Meningocele, Encephalocele, Spina bifida |
ORPHA:991 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Anencephaly, Hydrocephalus, Occipital meningocele |
OMIM:616546 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Neu-Laxova Syndrome |
|
Spina bifida |
ORPHA:2671 |
Focal Dermal Hypoplasia |
|
Spina bifida, Umbilical hernia |
ORPHA:2092 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Hallermann-Streiff Syndrome |
|
Spina bifida |
OMIM:234100 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea |
ORPHA:99413 |
Turner Syndrome |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea |
ORPHA:881 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea |
ORPHA:99226 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Phocomelia, Schinzel Type |
|
Meningocele |
ORPHA:2879 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... |
OMIM:610828 |
Neurofibromatosis, Type I |
|
Hydrocephalus, Aqueductal stenosis, Spina bifida |
OMIM:162200 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele |
OMIM:277170 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Small placenta, Short umbilical cord, Neonatal death, Spina bifida, Stillbirth |
OMIM:256520 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida |
ORPHA:508498 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Campomelic Dysplasia |
|
Hydrocephalus, Spinal dysraphism, Spina bifida |
OMIM:114290 |
Jacobsen Syndrome |
|
Spina bifida |
ORPHA:2308 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Dementia, Depression, Memory impairment |
OMIM:604121 |
22Q11.2 Deletion Syndrome |
|
Hydrocephalus, Meningocele, Spina bifida, Umbilical hernia |
ORPHA:567 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Spina bifida |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Spina bifida |
ORPHA:363958 |
Fanconi Anemia |
|
Hydrocephalus, Spina bifida, Umbilical hernia |
ORPHA:84 |
Knobloch Syndrome 1 |
|
Spina bifida occulta, Occipital encephalocele, Occipital meningocele |
OMIM:267750 |
Thrombocytopenia-Absent Radius Syndrome |
|
Spina bifida |
OMIM:274000 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida |
OMIM:619480 |
Arima Syndrome |
|
Occipital meningocele |
OMIM:243910 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Spina bifida, Neonatal death |
OMIM:614437 |
Vater/Vacterl Association |
|
Patent urachus, Occipital encephalocele, Spina bifida |
OMIM:192350 |
Rubinstein-Taybi Syndrome 1 |
|
Spina bifida occulta, Spina bifida |
OMIM:180849 |
Holoprosencephaly 9 |
|
Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus |
OMIM:610829 |
Marfan Syndrome |
|
Meningocele |
ORPHA:558 |
Femoral-Facial Syndrome |
|
Encephalocele, Spina bifida |
OMIM:134780 |
Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Stillbirth, Spina bifida, Umbilical hernia |
OMIM:304120 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Mental deterioration, Memory impairment, Depression |
ORPHA:314404 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele |
OMIM:276820 |