Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Congenital Herpes Simplex Virus Infection |
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Microcephaly, Hydranencephaly |
ORPHA:293 |
Isolated Anencephaly/Exencephaly |
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Anencephaly |
ORPHA:1048 |
Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
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Neonatal death |
OMIM:305690 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
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Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Da... |
OMIM:617967 |
Neural Tube Defects, Susceptibility To |
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Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Anencephaly, Spina bifida |
ORPHA:2476 |
Anencephaly 2 |
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Anencephaly |
OMIM:619452 |
Hydrolethalus Syndrome 2 |
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Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
Diprosopus |
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Anencephaly |
ORPHA:1681 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly |
OMIM:207770 |
Schisis Association |
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Microcephaly, Anencephaly, Encephalocele, Spina bifida |
ORPHA:63862 |
Meckel Syndrome, Type 4 |
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Agenesis of cerebellar vermis, Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Hy... |
OMIM:611134 |
Craniorachischisis |
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Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Microcephaly, Hydranencephaly |
OMIM:601355 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Cerebral cortical atrophy, Hydranencephaly, Aplasia/Hypoplasia of the corpus callosum, Microcepha... |
ORPHA:2570 |
Microhydranencephaly |
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Hydranencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia,... |
OMIM:605013 |
Aminopterin/Methotrexate Embryofetopathy |
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Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Aplasi... |
ORPHA:1908 |
Distal Deletion 13Q |
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Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Holoprosencephaly, Anence... |
ORPHA:1590 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Hydranencephaly, Hypoplasia of the brainstem, Neonatal death, Cerebellar hypoplasia, Stillbirth |
OMIM:236500 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Hydranencephaly, Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebe... |
OMIM:225790 |
Pyknoachondrogenesis |
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Stillbirth |
OMIM:265880 |
Meckel Syndrome, Type 5 |
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Occipital encephalocele, Anencephaly |
OMIM:611561 |
Meckel Syndrome, Type 2 |
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Meningocele, Anencephaly, Encephalocele, Dandy-Walker malformation |
OMIM:603194 |
Meckel Syndrome, Type 10 |
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Cerebellar hypoplasia, Occipital encephalocele, Dandy-Walker malformation, Anencephaly |
OMIM:614175 |
Hydrolethalus |
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Hydrocephalus, Anencephaly, Absent septum pellucidum, Agenesis of corpus callosum |
ORPHA:2189 |
Cerebrocostomandibular Syndrome |
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Hydranencephaly, Myelomeningocele, Cerebral calcification, Death in infancy, Microcephaly, Spina ... |
ORPHA:1393 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of cerebell... |
OMIM:615287 |
Iniencephaly |
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Lissencephaly, Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, H... |
ORPHA:63259 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Encephalocele, Agenesis of corpus callosum, Microcephaly, Anencephaly, Dandy-Walker malformation |
OMIM:619148 |
Meckel Syndrome, Type 6 |
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Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Polymicrogyria, Occipital meningocele,... |
OMIM:616546 |
Pelvis-Shoulder Dysplasia |
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Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
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Hydranencephaly, Reduced cerebral white matter volume, Polymicrogyria, Periventricular cysts, Bas... |
OMIM:620371 |
Pentalogy Of Cantrell |
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Hydrocephalus, Anencephaly, Encephalocele |
ORPHA:1335 |
Vacterl/Vater Association |
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Occipital encephalocele, Anencephaly |
ORPHA:887 |
Short-Rib Thoracic Dysplasia 12 |
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Holoprosencephaly, Anencephaly, Hydrocephalus, Neonatal death |
OMIM:269860 |
Trisomy 18 |
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Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Spina bifida, Holoprosencephaly, Anencep... |
ORPHA:3380 |
Thoracoabdominal Syndrome |
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Anencephaly, Hydrocephalus |
OMIM:313850 |
Meckel Syndrome |
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Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Hydrocephalus, Anencephal... |
ORPHA:564 |
Limb Body Wall Complex |
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Myelomeningocele, Encephalocele, Short umbilical cord, Hydrocephalus, Spina bifida, Spina bifida ... |
ORPHA:2369 |
Meckel Syndrome, Type 1 |
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Cerebral hypoplasia, Occipital encephalocele, Large placenta, Agenesis of corpus callosum, Cerebe... |
OMIM:249000 |
Neu-Laxova Syndrome 1 |
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Hydranencephaly, Stillbirth, Small placenta, Short umbilical cord, Agenesis of corpus callosum, C... |
OMIM:256520 |
Cousin Syndrome |
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Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Hydrolethalus Syndrome 1 |
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Abnormal cortical gyration, Absent septum pellucidum, Agenesis of corpus callosum, Stillbirth, An... |
OMIM:236680 |
Ring Chromosome 13 Syndrome |
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Microcephaly, Anencephaly, Agenesis of corpus callosum |
ORPHA:96176 |
Immunodeficiency 89 And Autoimmunity |
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OMIM:619632 |