Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Microcephaly |
ORPHA:293 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Dandy-Walker malformation, Holoprosencephaly, Hydranencephaly, Hydrocephalus |
OMIM:617967 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Optic nerve hypoplasia, Absent septum pellucidum, Cerebellar hypoplasia, Lissenc... |
OMIM:218670 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Cerebellar hypoplasia, Lissencephaly, Agen... |
ORPHA:1528 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele |
OMIM:182940 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
Diprosopus |
|
Anencephaly |
ORPHA:1681 |
Fetal Akinesia Syndrome, X-Linked |
|
Arrhinencephaly, Agenesis of corpus callosum |
OMIM:300073 |
Anencephaly 2 |
|
Anencephaly |
OMIM:619452 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Hydranencephaly, Hypoplasia of the brainstem, Hydrocephalus, Cerebella... |
OMIM:225790 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly, Aplasia/Hypoplasia of the ce... |
ORPHA:2570 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Anencephaly, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hy... |
OMIM:615287 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Microcephaly |
OMIM:601355 |
Microhydranencephaly |
|
Hydranencephaly, Pachygyria, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corp... |
OMIM:605013 |
Meckel Syndrome, Type 4 |
|
Dandy-Walker malformation, Meningocele, Anencephaly, Agenesis of cerebellar vermis, Hydrocephalus... |
OMIM:611134 |
Schisis Association |
|
Spina bifida, Anencephaly, Microcephaly |
ORPHA:63862 |
Distal Monosomy 13Q |
|
Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Microcephaly |
ORPHA:1590 |
Craniorachischisis |
|
Spinal dysraphism, Anencephaly, Myelomeningocele, Cervical spina bifida |
ORPHA:63260 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus,... |
ORPHA:1908 |
Meckel Syndrome, Type 10 |
|
Anencephaly |
OMIM:614175 |
Hydrolethalus |
|
Arrhinencephaly, Anencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2189 |
Meckel Syndrome, Type 2 |
|
Dandy-Walker malformation, Meningocele, Anencephaly |
OMIM:603194 |
Meckel Syndrome, Type 5 |
|
Anencephaly |
OMIM:611561 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hypoplasia of the brainstem, Hydranencephaly, Cerebellar hypoplasia |
OMIM:236500 |
Meckel Syndrome, Type 6 |
|
Hydrocephalus, Anencephaly |
OMIM:612284 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Anencephaly, Microcephaly |
OMIM:619148 |
Iniencephaly |
|
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Lissencephaly, Spina... |
ORPHA:63259 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Arrhinencephaly, Aqueductal stenosis |
ORPHA:1788 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Hydranencephaly, Myelomeningocele, Spina bifida, Porencephalic cyst, Cerebral calcif... |
ORPHA:1393 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Anencephaly, Hydrocephalus, Polymicrogyria |
OMIM:616546 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Hydranencephaly |
ORPHA:2839 |
Trisomy 18 |
|
Anencephaly, Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Microcep... |
ORPHA:3380 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Anencephaly |
ORPHA:1335 |
Vacterl/Vater Association |
|
Anencephaly |
ORPHA:887 |
Microgastria-Limb Reduction Defects Association |
|
Arrhinencephaly, Polymicrogyria, Porencephalic cyst, Fusion of the left and right thalami, Agenes... |
OMIM:156810 |
Caudal Regression Sequence |
|
Arrhinencephaly |
ORPHA:3027 |
Meckel Syndrome, Type 1 |
|
Dandy-Walker malformation, Anencephaly, Hydrocephalus, Cerebellar hypoplasia, Olfactory lobe agen... |
OMIM:249000 |
49,Xxxxy Syndrome |
|
Holoprosencephaly, Arrhinencephaly, Hypoplasia of the corpus callosum |
ORPHA:96264 |
Short-Rib Thoracic Dysplasia 12 |
|
Holoprosencephaly, Hydrocephalus, Anencephaly |
OMIM:269860 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Vacterl With Hydrocephalus |
|
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis |
ORPHA:3412 |
Meckel Syndrome |
|
Dandy-Walker malformation, Lobar holoprosencephaly, Anencephaly, Aplasia/Hypoplasia of the corpus... |
ORPHA:564 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Dandy-Walker malformation, Arrhinencephaly, Severe hydrocephalus, Ane... |
OMIM:236680 |
Aicardi-Goutières Syndrome |
|
Arrhinencephaly, Multifocal cerebral white matter abnormalities, Degeneration of the striatum, Po... |
ORPHA:51 |
Limb Body Wall Complex |
|
Anencephaly, Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta |
ORPHA:2369 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal cortical gyration, Arrhinencephaly, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2538 |
Ring Chromosome 13 Syndrome |
|
Agenesis of corpus callosum, Anencephaly, Microcephaly |
ORPHA:96176 |
Neu-Laxova Syndrome 1 |
|
Dandy-Walker malformation, Hydranencephaly, Spina bifida, Cerebellar hypoplasia, Lissencephaly, A... |
OMIM:256520 |
Fryns Syndrome |
|
Dandy-Walker malformation, Arrhinencephaly, Hypoplasia of the optic tract, Hypoplasia of olfactor... |
OMIM:229850 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Arrhinencephaly, Occipital myelomeningocele, Spina bifida, Hydrocephalus, Microcephaly |
ORPHA:567 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Arrhinencephaly, Primary microcephaly, Pachygyria, Hydrocephalus... |
ORPHA:3472 |
Pallister-Hall Syndrome |
|
Abnormal prolactin level, Arrhinencephaly, Adrenocorticotropic hormone deficiency, Holoprosenceph... |
ORPHA:672 |
Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Hydrocephalus |
ORPHA:1106 |
Doors Syndrome |
|
Dandy-Walker malformation, Arrhinencephaly, Polymicrogyria, Spina bifida occulta, Microcephaly |
ORPHA:79500 |
Charge Syndrome |
|
Arrhinencephaly, Holoprosencephaly, Gonadotropin deficiency, Decreased response to growth hormone... |
OMIM:214800 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Arrhinencephaly, Cerebellar vermis hypoplasia, Pachygyria, Cereb... |
OMIM:216340 |