Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Congenital Herpes Simplex Virus Infection |
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Hydranencephaly, Microcephaly |
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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Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, Hydranencephaly, Da... |
OMIM:617967 |
Neural Tube Defects, Susceptibility To |
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Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
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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Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
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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Encephalocele, Anencephaly, Spina bifida, Microcephaly |
ORPHA:63862 |
Meckel Syndrome, Type 4 |
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Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... |
OMIM:611134 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Hydranencephaly, Microcephaly |
OMIM:601355 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Hydranencephaly, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Apla... |
ORPHA:2570 |
Microhydranencephaly |
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Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... |
OMIM:605013 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Aplasia/Hypoplasia of the c... |
ORPHA:1908 |
Distal Deletion 13Q |
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Encephalocele, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosence... |
ORPHA:1590 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Hydranencephaly, Hypoplasia of the brainstem, Stillbirth, Cerebellar hypoplasia, Neonatal death |
OMIM:236500 |
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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Encephalocele, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:603194 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,... |
OMIM:225790 |
Meckel Syndrome, Type 10 |
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Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:614175 |
Hydrolethalus |
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Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2189 |
Cerebrocostomandibular Syndrome |
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Death in infancy, Cerebral calcification, Spina bifida, Microcephaly, Myelomeningocele, Porenceph... |
ORPHA:1393 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... |
OMIM:615287 |
Iniencephaly |
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Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Lis... |
ORPHA:63259 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Encephalocele, Microcephaly, Anencephaly, Agenesis of corpus callosum, 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, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Hypoplasia... |
OMIM:616546 |
Pelvis-Shoulder Dysplasia |
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Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Pentalogy Of Cantrell |
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Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Vacterl/Vater Association |
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Occipital encephalocele, Anencephaly |
ORPHA:887 |
Short-Rib Thoracic Dysplasia 12 |
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Neonatal death, Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
Trisomy 18 |
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Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencep... |
ORPHA:3380 |
Thoracoabdominal Syndrome |
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Hydrocephalus, Anencephaly |
OMIM:313850 |
Meckel Syndrome |
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Encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Aplasia/Hypoplasia of the corpus callosu... |
ORPHA:564 |
Meckel Syndrome, Type 1 |
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Occipital encephalocele, Microcephaly, Large placenta, Hydrocephalus, Anencephaly, Cerebral hypop... |
OMIM:249000 |
Limb Body Wall Complex |
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Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Neu-Laxova Syndrome 1 |
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Hydranencephaly, Spina bifida, Stillbirth, Lissencephaly, Short umbilical cord, Small placenta, P... |
OMIM:256520 |
Cousin Syndrome |
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Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Hydrolethalus Syndrome 1 |
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Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Stillbirth, Severe hydrocephal... |
OMIM:236680 |
Ring Chromosome 13 Syndrome |
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Anencephaly, Agenesis of corpus callosum, Microcephaly |
ORPHA:96176 |
Immunodeficiency 89 And Autoimmunity |
|
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OMIM:619632 |