Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Gonadal dysgenesis |
OMIM:615041 |
Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Caudal Duplication |
|
Abnormal penis morphology, Spina bifida, Cryptorchidism, Myelomeningocele, Uterus didelphys |
ORPHA:1756 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Triploidy |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... |
ORPHA:3376 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Int... |
ORPHA:1908 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... |
ORPHA:83628 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation |
OMIM:611134 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Cryptorchidism, Meningocele, Abnormal morphology of female internal genitalia, Umbil... |
ORPHA:2311 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Spina bifida, Meningocele, Abnormal morphology of female interna... |
ORPHA:991 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:1327 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine grow... |
ORPHA:1393 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Sirenomelia |
|
Ambiguous genitalia, Spina bifida, Sirenomelia |
ORPHA:3169 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Meningocele |
ORPHA:2481 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Spina bifida |
ORPHA:1120 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Amish Lethal Microcephaly |
|
Death in infancy, Spina bifida |
ORPHA:99742 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Cryptorchidism, Meningocele |
ORPHA:1827 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida, Ambiguous genitalia |
ORPHA:2839 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphol... |
ORPHA:3412 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Spina bifida, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian ... |
ORPHA:99776 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele |
OMIM:614424 |
Trisomy 20P |
|
Hypospadias, Spina bifida, Cryptorchidism, Macroorchidism, Umbilical hernia |
ORPHA:261318 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Cryptorchidism |
ORPHA:2789 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Hydrocephalus, Meningocele, Cryptorchidism |
OMIM:130720 |
Trisomy 18 |
|
Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly, Intrauterine growth retardation, Ab... |
ORPHA:3380 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Neu-Laxova Syndrome |
|
External genital hypoplasia, Spina bifida, Hypogonadism, Ambiguous genitalia, Intrauterine growth... |
ORPHA:2671 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Spina bifida |
ORPHA:2874 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Spina bifida, Myelomeningocele, Abnormality of the clitoris, Abnormal fallop... |
ORPHA:93929 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Cryptorchidism, Meningocele, Aplasia of the uterus, Intrauterine growth reta... |
ORPHA:2879 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Bifid uterus, Cryptorchidism, Stillbirth, Neonatal death, Small placenta, Short umb... |
OMIM:256520 |
Fanconi Anemia |
|
Hypospadias, Spina bifida, Abnormal preputium morphology, Cryptorchidism, Hydrocephalus, Azoosper... |
ORPHA:84 |
Lathosterolosis |
|
Intrauterine growth retardation, Hypoplasia of penis, Meningocele |
ORPHA:46059 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele, Hypospadias |
ORPHA:397715 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Spina bifida, Bifid uterus, Cryptorchidism, Hydrocephalus, Epispadias, Cystocele, ... |
ORPHA:322 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Aplasia of the vagina, Spina bifida |
OMIM:193500 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Spina bifida |
OMIM:234100 |
Jacobsen Syndrome |
|
Cryptorchidism, Intrauterine growth retardation, Spina bifida, Death in infancy |
ORPHA:2308 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly, Micropenis |
OMIM:616546 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipital myelomeningocele... |
ORPHA:567 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida |
OMIM:109400 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Focal Dermal Hypoplasia |
|
Umbilical hernia, Spina bifida |
ORPHA:2092 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Testicular neoplasm, Spina bifida, Precocious puberty, Cryptorchidism, Hydrocephalus |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Testicular neoplasm, Spina bifida, Precocious puberty, Cryptorchidism, Hydrocephalus |
ORPHA:363958 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Aplasia of the uterus, Spina bifida |
OMIM:274000 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Spina bifida, Premature thelarche, Bilateral cryptorchidism, Cryptorchidism, Papilla... |
OMIM:180849 |
Split Cord Malformation |
|
Hypospadias, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocep... |
ORPHA:573278 |
Campomelic Dysplasia |
|
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal |
OMIM:114290 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Spina bifida |
ORPHA:508498 |
Aicardi Syndrome |
|
Precocious puberty, Spina bifida |
OMIM:304050 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Umbilical hernia |
OMIM:304120 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele |
OMIM:277170 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Vater/Vacterl Association |
|
Occipital encephalocele, Hypospadias, Spina bifida, Patent urachus, Intrauterine growth retardation |
OMIM:192350 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Spina bifida occulta |
OMIM:267750 |
Marfan Syndrome |
|
Meningocele |
ORPHA:558 |
Arima Syndrome |
|
Occipital meningocele |
OMIM:243910 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida |
OMIM:619480 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus... |
OMIM:276820 |
Alazami Syndrome |
|
Retractile testis |
OMIM:615071 |
Alazami Syndrome |
|
|
ORPHA:319671 |