Miller-Dieker syndrome (MDS) |
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Frontal bossing, Lissencephaly, Midface retrusion, Microcephaly |
DECIPHER:21 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated 1 |
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Microphthalmia, Anophthalmia |
OMIM:251600 |
Microphthalmia, Isolated, With Coloboma 10 |
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Microphthalmia, Anophthalmia |
OMIM:616428 |
Sporadic Fetal Brain Disruption Sequence |
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Prominent occiput, Plagiocephaly, Cerebral cortical atrophy, Microcephaly |
ORPHA:1665 |
Microphthalmia, Isolated, With Coloboma 5 |
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Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
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Diffuse cerebral atrophy, Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly |
ORPHA:2898 |
Microphthalmia, Syndromic 16 |
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Microphthalmia, Anophthalmia |
OMIM:611038 |
Oculocerebrocutaneous Syndrome |
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Anophthalmia, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of corpus callosum, Dan... |
OMIM:164180 |
Anencephaly 2 |
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Anophthalmia, Anencephaly |
OMIM:619452 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
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Microphthalmia, Brachycephaly, Microcephaly |
ORPHA:2528 |
Adenylosuccinate Lyase Deficiency |
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Flat occiput, Hypointensity of cerebral white matter on MRI, Brachycephaly, Microcephaly |
ORPHA:46 |
Fryns Microphthalmia Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:600776 |
Microphthalmia, Isolated 8 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Meckel Syndrome, Type 8 |
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Microphthalmia, Anophthalmia, Microcephaly |
OMIM:613885 |
Cleidocranial Dysplasia, Recessive Form |
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Brachycephaly |
OMIM:216330 |
Microphthalmia, Syndromic 12 |
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Microphthalmia, Anophthalmia |
OMIM:615524 |
Intellectual Developmental Disorder, X-Linked 1 |
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Secondary microcephaly, Brachycephaly |
OMIM:309530 |
Congenital Disorder Of Glycosylation, Type Iiy |
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Microcephaly, Brachycephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus ... |
OMIM:620200 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Thickened calvaria, Brachycephaly, Craniosynostosis, Macrocephaly |
ORPHA:178377 |
Non-Distal Duplication 10Q |
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Frontal bossing, Aplasia/Hypoplasia affecting the eye, Brachycephaly, Microcephaly |
ORPHA:1695 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Brachycephaly, Lambdo... |
OMIM:618736 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
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Plagiocephaly, Agenesis of corpus callosum, Macrocephaly |
ORPHA:459074 |
Microphthalmia With Brain And Digit Anomalies |
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Anophthalmia, Microcephaly, Microphthalmia, Inferior cerebellar vermis hypoplasia, Agenesis of co... |
ORPHA:139471 |
Craniosynostosis 6 |
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Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachycephaly, Plagiocephaly, Ri... |
OMIM:616602 |
Walker-Warburg Syndrome |
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Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Macrogyria, Lis... |
ORPHA:899 |
Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
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Frontal polymicrogyria, Focal cortical dysplasia, Cerebellar vermis hypoplasia, Microcephaly, Pla... |
OMIM:614563 |
Kleefstra Syndrome 2 |
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Plagiocephaly, Midface retrusion, Microcephaly |
OMIM:617768 |
Solitary Median Maxillary Central Incisor |
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Microphthalmia, Anophthalmia, Microcephaly |
OMIM:147250 |
Cerebrooculonasal Syndrome |
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Anophthalmia, Brachycephaly |
ORPHA:66625 |
Hydrolethalus |
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Anophthalmia, Absent septum pellucidum, Anencephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:2189 |
Trisomy 13 |
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Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Calvarial skull defect |
ORPHA:3378 |
Band Heterotopia |
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Subcortical band heterotopia, Plagiocephaly, Macrocephaly, Polymicrogyria, Agenesis of corpus cal... |
OMIM:600348 |
Trisomy 1Q |
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Frontal bossing, Anophthalmia, Cerebellar hypoplasia, Macrocephaly, Agenesis of corpus callosum |
ORPHA:261344 |
Cerebrooculonasal Syndrome |
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Frontal bossing, Anophthalmia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Craniosynost... |
OMIM:605627 |
Developmental And Epileptic Encephalopathy 65 |
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Plagiocephaly, Cerebral atrophy, Microcephaly |
OMIM:618008 |
Hemimegalencephaly |
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Pachygyria, Cranial asymmetry, Hemimegalencephaly, Macrocephaly, Hyperintensity of cerebral white... |
ORPHA:99802 |
Microphthalmia, Syndromic 3 |
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Frontal bossing, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Hypopla... |
OMIM:206900 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Microphthalmia, Anophthalmia, Agenesis of corpus callosum |
ORPHA:77298 |
Anophthalmia Plus Syndrome |
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Anophthalmia |
ORPHA:1104 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Frontal bossing, Anophthalmia |
OMIM:206920 |
Microphthalmia, Syndromic 5 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Crouzon Syndrome With Acanthosis Nigricans |
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Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Cockayne Syndrome Type 2 |
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Anophthalmia, Subcortical white matter calcifications |
ORPHA:90322 |
Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2717 |
Craniofacial Dyssynostosis With Short Stature |
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Frontal bossing, Brachycephaly, Hypoplasia of the corpus callosum, Abnormal shape of the occiput,... |
OMIM:218350 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
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Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry, Optic nerve hypoplasia, Macrocephaly |
ORPHA:137634 |
Holoprosencephaly 9 |
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Anophthalmia, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Partial agenesis ... |
OMIM:610829 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Plagiocephaly, Anophthalmia, Aniridia, Dolichocephaly |
ORPHA:1101 |
Achard Syndrome |
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Broad skull, Brachycephaly |
OMIM:100700 |
Matthew-Wood Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2470 |
Holoprosencephaly |
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Frontal bossing, Anophthalmia, Flat occiput, Microcephaly, Aplasia/Hypoplasia of the corpus callo... |
ORPHA:2162 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Microphthalmia, Anophthalmia, Macrocephaly |
OMIM:615877 |
Microgastria-Limb Reduction Defect Syndrome |
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Frontal bossing, Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Plagiocephal... |
ORPHA:2538 |
Manitoba Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:248450 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
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Brachycephaly, Craniosynostosis |
OMIM:614416 |
Linear Nevus Sebaceus Syndrome |
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Frontal bossing, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus cal... |
ORPHA:2612 |
Microphthalmia, Syndromic 6 |
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Anophthalmia, Microcephaly, Brachycephaly, Aplasia/Hypoplasia of the corpus callosum, Plagiocepha... |
OMIM:607932 |
14Q22Q23 Microdeletion Syndrome |
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Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum, Brachycephaly |
ORPHA:264200 |
Craniosynostosis 2 |
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Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep... |
OMIM:604757 |
Meckel Syndrome |
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Anophthalmia, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypop... |
ORPHA:564 |
Cockayne Syndrome Type 1 |
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Basal ganglia calcification, Anophthalmia |
ORPHA:90321 |
Fibular Hemimelia |
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Anophthalmia, Craniosynostosis |
ORPHA:93323 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Microphthalmia, Anophthalmia, Hypoplasia of the olfactory bulb |
ORPHA:2250 |
Microphthalmia With Linear Skin Defects Syndrome |
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Anophthalmia, Absent septum pellucidum, Microcephaly, Microphthalmia, Agenesis of corpus callosum... |
ORPHA:2556 |
Microphthalmia, Syndromic 9 |
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Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Microphthalmia, Anophthalmia, Microcephaly |
ORPHA:2526 |
Vacterl With Hydrocephalus |
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Microphthalmia, Anophthalmia |
ORPHA:3412 |
Proboscis Lateralis |
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Anophthalmia, Optic nerve hypoplasia, Proboscis, Macrocephaly, Microphthalmia, Abnormal corpus ca... |
ORPHA:141099 |
Fraser Syndrome 1 |
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Anophthalmia, Abnormal cortical gyration, Microcephaly, Bilateral microphthalmos, Calvarial skull... |
OMIM:219000 |
Joubert Syndrome 21 |
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Hypoplasia of the brainstem, Anophthalmia, Hypoplasia of the corpus callosum |
OMIM:615636 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Scaphocephaly, Cranial asymmetry, Cerebral atrophy, Microcephaly |
OMIM:614886 |
Charge Syndrome |
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Anophthalmia, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Dandy-Walker ma... |
ORPHA:138 |
Fraser Syndrome |
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Microphthalmia, Anophthalmia, Calvarial skull defect, Microcephaly |
ORPHA:2052 |
Microphthalmia, Syndromic 2 |
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Anophthalmia, Microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malfo... |
OMIM:300166 |
Holoprosencephaly 7 |
|
Frontal bossing, Flat occiput, Microcephaly, Partial agenesis of the corpus callosum, Bilateral m... |
OMIM:610828 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Microcephaly, Aniridia, Microphthalmia, Agenesis of corpus callosum |
OMIM:305600 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Frontal bossing, True anophthalmia |
ORPHA:1106 |
Branchiooculofacial Syndrome |
|
Agenesis of cerebellar vermis, Anophthalmia, Microcephaly, Dolichocephaly, Microphthalmia |
OMIM:113620 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia, Unilateral microphthalmos, Microcephaly |
OMIM:214800 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Cranial asymmetry, Hemimegalencephaly |
OMIM:163200 |
Arthrogryposis, Distal, Type 4 |
|
Cranial asymmetry |
OMIM:609128 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia, Microcephaly |
OMIM:309800 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia, Agenesis of corpus callosum |
OMIM:164210 |
Wiedemann-Rautenstrauch Syndrome |
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Thickened calvaria, Frontal bossing, Relative macrocephaly, Optic disc hypoplasia, Cranial asymme... |
ORPHA:3455 |