Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
46,Xy Sex Reversal 9 |
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Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia |
OMIM:616067 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
46,Xy Sex Reversal 8 |
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Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
46,Xy Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Frontal Encephalocele |
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Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Acalvaria |
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Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
46,Xy Sex Reversal 1 |
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Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Abnormality of the menstr... |
OMIM:400044 |
46,Xy Sex Reversal 10 |
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Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Cleft palate, Ectopic anus, Anencephaly, Spina bifida |
ORPHA:2476 |
46,Xy Sex Reversal 2 |
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Sex reversal |
OMIM:300018 |
46,Xx Sex Reversal 3 |
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Sex reversal |
OMIM:300833 |
Hemihyperplasia, Isolated |
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Myelomeningocele |
OMIM:235000 |
Schisis Association |
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Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Anal atresia |
ORPHA:63862 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida |
OMIM:211960 |
Fryns Microphthalmia Syndrome |
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Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
Thoraco-Abdominal Enteric Duplication |
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Meningocele, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Neural Tube Defects, Susceptibility To |
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Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
46,Xy Sex Reversal 6 |
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Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
46,Xy Sex Reversal 3 |
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Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Isolated Hemihyperplasia |
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Myelomeningocele |
ORPHA:2128 |
Subependymal Nodular Heterotopia |
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Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
46,Xy Sex Reversal 7 |
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Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Caudal Duplication |
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Myelomeningocele, Intestinal duplication, Spina bifida |
ORPHA:1756 |
Nevus Comedonicus Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Acropectorovertebral Dysplasia |
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High, narrow palate, Cleft palate, Spina bifida |
ORPHA:957 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia |
ORPHA:63260 |
Isolated Klippel-Feil Syndrome |
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Cleft palate, Ectopic anus, Anal atresia, Spina bifida |
ORPHA:2345 |
Wildervanck Syndrome |
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Meningocele |
ORPHA:3456 |
46,Xx Sex Reversal 2 |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Sirenomelia |
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Anal atresia, Tracheoesophageal fistula, Spina bifida, Sirenomelia |
ORPHA:3169 |
Diaphanospondylodysostosis |
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Myelomeningocele, Cleft palate |
ORPHA:66637 |
Meckel Syndrome, Type 2 |
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Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate |
OMIM:603194 |
Humero-Radial Synostosis |
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Meningocele |
ORPHA:3265 |
Chiari Malformation Type Ii |
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Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Muscle-Eye-Brain Disease |
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Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Spinal dysraphism, Holopros... |
ORPHA:1908 |
Meckel Syndrome, Type 4 |
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Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate |
OMIM:611134 |
46,Xy Sex Reversal 5 |
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Sex reversal |
OMIM:613080 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect, Anal atresia |
OMIM:119580 |
Anophthalmia Plus Syndrome |
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Cleft palate, Spina bifida, Bilateral cleft lip and palate |
ORPHA:1104 |
Enlarged Parietal Foramina |
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Occipital encephalocele, Myelomeningocele, Cleft palate |
ORPHA:60015 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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High palate, Spina bifida |
ORPHA:1327 |
46,Xy Partial Gonadal Dysgenesis |
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Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Czeizel-Losonci Syndrome |
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Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High palate, Spina bifi... |
ORPHA:2437 |
Triploidy |
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Intestinal malrotation, Hydrocephalus, Meningocele, Cleft palate, Macroglossia, Holoprosencephaly |
ORPHA:3376 |
Waardenburg Syndrome Type 1 |
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Cleft palate, Meningocele, Aganglionic megacolon, Spina bifida |
ORPHA:894 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
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Meningocele, Bilateral cleft lip and palate |
ORPHA:2003 |
Alg3-Cdg |
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Macroglossia, Neural tube defect, Abnormal uvula morphology, High palate |
ORPHA:79321 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Autosomal Recessive Spondylocostal Dysostosis |
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Umbilical hernia, Meningocele, Spina bifida occulta, Cleft palate |
ORPHA:2311 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Glossoptosis, Meningocele |
ORPHA:2031 |
Neurocutaneous Melanocytosis |
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Meningocele |
ORPHA:2481 |
Joubert Syndrome 14 |
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Encephalocele, Hydrocephalus, Meningocele, Cleft palate |
OMIM:614424 |
Amish Lethal Microcephaly |
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Cleft soft palate, Spina bifida |
ORPHA:99742 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess |
OMIM:600145 |
Fountain Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Cerebrocostomandibular Syndrome |
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Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Hydranencephaly, Short h... |
ORPHA:1393 |
Iniencephaly |
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Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Pelvis-Shoulder Dysplasia |
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Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia |
ORPHA:2839 |
Lateral Meningocele Syndrome |
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Umbilical hernia, Meningocele, High palate, High, narrow palate |
ORPHA:2789 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Spina bifida |
ORPHA:1120 |
Acromelic Frontonasal Dysplasia |
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Encephalocele, Meningocele, Median cleft palate |
ORPHA:1827 |
Lumbar Syndrome |
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Anal atresia, Myelomeningocele, Ectopic anus, Spina bifida |
ORPHA:83628 |
Lateral Meningocele Syndrome |
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Hydrocephalus, Meningocele, Cleft palate, High palate, Umbilical hernia |
OMIM:130720 |
Neu-Laxova Syndrome 2 |
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Cleft palate, High palate, Spina bifida |
OMIM:616038 |
Chromosome 17P13.1 Deletion Syndrome |
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Spina bifida, High, narrow palate, Hydrocephalus, High palate, Umbilical hernia |
OMIM:613776 |
Vacterl With Hydrocephalus |
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Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, ... |
ORPHA:3412 |
Limb Body Wall Complex |
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Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Cleft palate, Abnormal... |
ORPHA:2369 |
Curry-Jones Syndrome |
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Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lipomyelomeningocele, Occip... |
OMIM:601707 |
Cloacal Exstrophy |
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Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Anal atresia |
ORPHA:93929 |
Trisomy 20P |
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Umbilical hernia, Ectopic anus, Spina bifida |
ORPHA:261318 |
Fanconi Anemia, Complementation Group C |
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Intrauterine growth retardation, Prolonged G2 phase of cell cycle, Short stature |
OMIM:227645 |
Fanconi Anemia, Complementation Group E |
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Prolonged G2 phase of cell cycle, Short stature |
OMIM:600901 |
Trisomy 18 |
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Spina bifida, Esophageal atresia, Anencephaly, Cleft palate, Narrow palate, Holoprosencephaly, An... |
ORPHA:3380 |
Fanconi Anemia, Complementation Group A |
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Prolonged G2 phase of cell cycle, Short stature |
OMIM:227650 |
Mosaic Trisomy 9 |
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Cleft palate, High palate, Intestinal malrotation, Spina bifida |
ORPHA:99776 |
Phakomatosis Pigmentokeratotica |
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Spina bifida |
ORPHA:2874 |
Fanconi Anemia, Complementation Group D2 |
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Hydrocephalus, Prolonged G2 phase of cell cycle, Short stature |
OMIM:227646 |
Nail-Patella Syndrome |
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Cleft palate, Spina bifida |
OMIM:161200 |
Waardenburg Syndrome, Type 1 |
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Myelomeningocele, Spina bifida |
OMIM:193500 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Occipital meningocele |
OMIM:616546 |
Lathosterolosis |
|
Meningocele, High palate |
ORPHA:46059 |
Phocomelia, Schinzel Type |
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High, narrow palate, Meningocele, Tracheoesophageal fistula, Cleft palate, Anal atresia |
ORPHA:2879 |
Neu-Laxova Syndrome |
|
Cleft palate, Submucous cleft hard palate, Bifid uvula, Spina bifida |
ORPHA:2671 |
Focal Dermal Hypoplasia |
|
Umbilical hernia, Spina bifida, Duodenal atresia |
ORPHA:2092 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele |
ORPHA:397715 |
Basal Cell Nevus Syndrome 1 |
|
Cleft palate, Hydrocephalus, Hamartomatous stomach polyps, Spina bifida |
OMIM:109400 |
Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Cleft palate, Lobulated tongue, High palate, Occipital meningocele, Tongue n... |
OMIM:277170 |
Hallermann-Streiff Syndrome |
|
High, narrow palate, Narrow palate, High palate, Spina bifida |
OMIM:234100 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Pagod Syndrome |
|
Encephalocele, Meningocele, Spina bifida |
ORPHA:991 |
Holoprosencephaly 7 |
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Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Cle... |
OMIM:610828 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Cleft palate, Stillbirth, Neonatal death, Small placenta, Short umbilical cord, Hyd... |
OMIM:256520 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Jacobsen Syndrome |
|
Intestinal malrotation, Spina bifida, Pyloric stenosis, Abnormality of the anus, Ectopic anus, Du... |
ORPHA:2308 |
Fanconi Anemia |
|
Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Hydrocephalus, Tracheoesoph... |
ORPHA:84 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
22Q11.2 Deletion Syndrome |
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Aganglionic megacolon, Intestinal malrotation, Spina bifida, Hydrocephalus, Meningocele, Cleft pa... |
ORPHA:567 |
Aicardi Syndrome |
|
Cleft palate, Spina bifida, Hiatus hernia |
OMIM:304050 |
Vater/Vacterl Association |
|
Occipital encephalocele, Spina bifida, Esophageal atresia, Tracheoesophageal fistula, Patent urac... |
OMIM:192350 |
Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Spinal dysraphism, High p... |
OMIM:114290 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Meckel diverticulum, Spina bifida |
OMIM:274000 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Bifid uvula, Spina bifida |
OMIM:619480 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida |
ORPHA:508498 |
Arima Syndrome |
|
Occipital meningocele, Esophageal varix |
OMIM:243910 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Spina bifida occulta, Pyloric stenosis |
OMIM:267750 |
Marfan Syndrome |
|
High, narrow palate, Meningocele, Cleft palate |
ORPHA:558 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Spina bifida |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Spina bifida |
ORPHA:363958 |
Rubinstein-Taybi Syndrome 1 |
|
Spina bifida, High, narrow palate, Cleft palate, Narrow palate, High palate, Spina bifida occulta |
OMIM:180849 |
Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Hydrocephalus, Cleft palate, Stillbirth, Umbilical hernia |
OMIM:304120 |
Exstrophy-Epispadias Complex |
|
Anal stenosis, Hydrocephalus, Anal atresia, Spina bifida |
ORPHA:322 |
Semilobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93924 |
Schinzel-Giedion Syndrome |
|
Umbilical hernia, Neural tube defect |
ORPHA:798 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, High palate, Narrow palate |
OMIM:276820 |
Nephroblastoma |
|
|
ORPHA:654 |