Anencephaly 1 |
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Spina bifida, Anencephaly |
OMIM:206500 |
Isolated Anencephaly/Exencephaly |
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Anencephaly |
ORPHA:1048 |
Congenital Herpes Simplex Virus Infection |
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Hydranencephaly, Microcephaly |
ORPHA:293 |
Craniotelencephalic Dysplasia |
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Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Absent septum pell... |
OMIM:218670 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
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Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cerebellar agenesis, Da... |
OMIM:617967 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Craniotelencephalic Dysplasia |
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Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr... |
ORPHA:1528 |
Aprosencephaly Syndrome |
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Anencephaly, Aprosencephaly |
OMIM:207770 |
Anencephaly 2 |
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Anencephaly |
OMIM:619452 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Spina bifida, Anencephaly |
ORPHA:2476 |
Fetal Akinesia Syndrome, X-Linked |
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Arrhinencephaly, Agenesis of corpus callosum |
OMIM:300073 |
Hydrolethalus Syndrome 2 |
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Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
Diprosopus |
|
Anencephaly |
ORPHA:1681 |
Craniorachischisis |
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Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida |
ORPHA:63260 |
Schisis Association |
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Spina bifida, Anencephaly, Encephalocele, Microcephaly |
ORPHA:63862 |
Meckel Syndrome, Type 4 |
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Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Microcephaly, Hypoplasia of the corpus ca... |
OMIM:611134 |
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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Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus... |
ORPHA:2570 |
Microhydranencephaly |
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Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Pachygyria, Ag... |
OMIM:605013 |
Distal Monosomy 13Q |
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Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Anencephaly, Holoprosencephaly, Microce... |
ORPHA:1590 |
Aminopterin/Methotrexate Embryofetopathy |
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Meningocele, Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Aplasia/Hypo... |
ORPHA:1908 |
Meckel Syndrome, Type 5 |
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Occipital encephalocele, Anencephaly |
OMIM:611561 |
Microcephaly 20, Primary, Autosomal Recessive |
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Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinencephaly, Optic ne... |
OMIM:617914 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Meckel Syndrome, Type 2 |
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Meningocele, Anencephaly, Encephalocele, Dandy-Walker malformation |
OMIM:603194 |
Joubert Syndrome 18 |
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Occipital encephalocele, Arrhinencephaly, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
OMIM:614815 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus, H... |
OMIM:225790 |
Meckel Syndrome, Type 10 |
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Occipital encephalocele, Anencephaly, Dandy-Walker malformation, Cerebellar hypoplasia |
OMIM:614175 |
Hydrolethalus |
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Arrhinencephaly, Hydrocephalus, Anencephaly, Absent septum pellucidum, Agenesis of corpus callosum |
ORPHA:2189 |
Meckel Syndrome 12 |
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Cerebellar hypoplasia, Cerebral hypoplasia, Arrhinencephaly, Microcephaly, Agenesis of cerebellar... |
OMIM:616258 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Hydranencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia |
OMIM:236500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Anencephaly... |
OMIM:615287 |
Iniencephaly |
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Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Lis... |
ORPHA:63259 |
Cerebrocostomandibular Syndrome |
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Meningocele, Myelomeningocele, Spina bifida, Porencephalic cyst, Cerebral calcification, Hydranen... |
ORPHA:1393 |
Meckel Syndrome, Type 6 |
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Occipital encephalocele, Anencephaly, Hydrocephalus |
OMIM:612284 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Encephalocele, Anencephaly, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum |
OMIM:619148 |
Acrofacial Dysostosis, RodrÃguez Type |
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Arrhinencephaly, Aqueductal stenosis |
ORPHA:1788 |
Pentalogy Of Cantrell |
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Anencephaly, Hydrocephalus, Encephalocele |
ORPHA:1335 |
Pelvis-Shoulder Dysplasia |
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Spina bifida, Hydranencephaly, Hydrocephalus |
ORPHA:2839 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Anencephaly, Hydrocephalus, Cerebellar vermis hypoplasia, Polymicrogyria |
OMIM:616546 |
49,Xxxxy Syndrome |
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Hypoplasia of the corpus callosum, Arrhinencephaly, Holoprosencephaly |
ORPHA:96264 |
Vacterl/Vater Association |
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Occipital encephalocele, Anencephaly |
ORPHA:887 |
Thoracoabdominal Syndrome |
|
Anencephaly, Hydrocephalus |
OMIM:313850 |
Trisomy 18 |
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Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Anencephaly, Holoprosencephaly, Microcep... |
ORPHA:3380 |
Caudal Regression Syndrome |
|
Arrhinencephaly |
ORPHA:3027 |
Orofaciodigital Syndrome Vi |
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Porencephalic cyst, Arrhinencephaly, Polymicrogyria, Occipital meningocele, Agenesis of corpus ca... |
OMIM:277170 |
Short-Rib Thoracic Dysplasia 12 |
|
Anencephaly, Holoprosencephaly, Hydrocephalus |
OMIM:269860 |
Vacterl With Hydrocephalus |
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Spina bifida, Arrhinencephaly, Hydrocephalus, Aqueductal stenosis |
ORPHA:3412 |
Meckel Syndrome |
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Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Anencephaly, Hydrocephalus, Lobar holop... |
ORPHA:564 |
Limb Body Wall Complex |
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Encephalocele, Myelomeningocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ... |
ORPHA:2369 |
Meckel Syndrome, Type 1 |
|
Cerebellar hypoplasia, Cerebral hypoplasia, Anencephaly, Hydrocephalus, Agenesis of corpus callos... |
OMIM:249000 |
Cousin Syndrome |
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Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Aicardi-Goutières Syndrome |
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Porencephalic cyst, Arrhinencephaly, Cerebral calcification, Multifocal cerebral white matter abn... |
ORPHA:51 |
Hydrolethalus Syndrome 1 |
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Severe hydrocephalus, Abnormal cortical gyration, Arrhinencephaly, Anencephaly, Agenesis of corpu... |
OMIM:236680 |
22Q11.2 Deletion Syndrome |
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Meningocele, Spina bifida, Arrhinencephaly, Hydrocephalus, Occipital myelomeningocele, Microcepha... |
ORPHA:567 |
Microgastria-Limb Reduction Defect Syndrome |
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Arrhinencephaly, Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration |
ORPHA:2538 |
Fryns Syndrome |
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Arrhinencephaly, Dandy-Walker malformation, Hypoplasia of olfactory tract, Hypoplasia of the opti... |
OMIM:229850 |
Neu-Laxova Syndrome 1 |
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Primary microcephaly, Spina bifida, Short umbilical cord, Cerebellar hypoplasia, Agenesis of corp... |
OMIM:256520 |
Ring Chromosome 13 Syndrome |
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Anencephaly, Microcephaly, Agenesis of corpus callosum |
ORPHA:96176 |
Yunis-Varon Syndrome |
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Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Primary microcephaly, Arrhinencephaly, Hy... |
ORPHA:3472 |
Microphthalmia With Limb Anomalies |
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Arrhinencephaly, Hydrocephalus |
ORPHA:1106 |
Doors Syndrome |
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Arrhinencephaly, Spina bifida occulta, Sirenomelia, Microcephaly, Dandy-Walker malformation, Poly... |
ORPHA:79500 |
Pallister-Hall Syndrome |
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Cerebellar hypoplasia, Arrhinencephaly, Holoprosencephaly, Abnormal corpus callosum morphology, A... |
ORPHA:672 |
Charge Syndrome |
|
Arrhinencephaly, Holoprosencephaly, Microcephaly, Umbilical hernia |
OMIM:214800 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Arrhinencephaly, Microcephaly, Pachygyria... |
OMIM:216340 |