Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... |
OMIM:611638 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosenceph... |
OMIM:609637 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly |
OMIM:617967 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly |
OMIM:619033 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Holoprosencephaly 11 |
|
Holoprosencephaly |
OMIM:614226 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Semilobar holoprosencephaly |
OMIM:601370 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia, Agenesis of corpus callosum |
OMIM:164180 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Microphthalmia, Anophthalmia |
OMIM:615524 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Anosmia, Coloboma, Holoprosencephaly, Microphthalmia, Cyclopia |
OMIM:147250 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia |
OMIM:613885 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Iris coloboma, Spina bifida |
ORPHA:1104 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum, Iris... |
ORPHA:77298 |
Hydrolethalus |
|
Anophthalmia, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Microphthalmia, Agen... |
ORPHA:2189 |
Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly |
ORPHA:2117 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:93274 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Anophthalmia |
ORPHA:411986 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Holoprosencephaly |
ORPHA:2570 |
Distal Deletion 13Q |
|
Encephalocele, Anencephaly, Holoprosencephaly |
ORPHA:1590 |
Ring Chromosome 21 Syndrome |
|
Holoprosencephaly |
ORPHA:1445 |
Distal Monosomy 7Q36 |
|
Holoprosencephaly |
ORPHA:1636 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia |
OMIM:615113 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly |
OMIM:615433 |
Lambotte Syndrome |
|
Semilobar holoprosencephaly |
OMIM:245552 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus callosum, Iris coloboma |
ORPHA:139471 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly |
ORPHA:2165 |
Monosomy 18P |
|
Holoprosencephaly |
ORPHA:1598 |
Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Walker-Warburg Syndrome |
|
Anophthalmia, Hydrocephalus, Microphthalmia, Agenesis of corpus callosum, Iris coloboma |
ORPHA:899 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Iris coloboma |
ORPHA:3378 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Holoprosencephaly 4 |
|
Semilobar holoprosencephaly |
OMIM:142946 |
Agnathia-Otocephaly Complex |
|
Holoprosencephaly |
OMIM:202650 |
1Q41Q42 Microdeletion Syndrome |
|
Holoprosencephaly |
ORPHA:250999 |
Trisomy 1Q |
|
Hydrocephalus, Anophthalmia, Agenesis of corpus callosum |
ORPHA:261344 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Coach Syndrome 2 |
|
Hydrocephalus, Coloboma, Chorioretinal coloboma, Molar tooth sign on MRI, Agenesis of corpus call... |
OMIM:619111 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Microphthalmia |
ORPHA:3412 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Holoprosencephaly |
ORPHA:990 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Hydrocephalus, Anosmia, Spinal dysraphism, Branchial anomaly, Holopr... |
ORPHA:2162 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Coloboma, Exencephaly |
OMIM:614464 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Coloboma, Encephalocele |
OMIM:614465 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Holoprosencephaly |
ORPHA:2163 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Coloboma, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Holoprosencephaly |
OMIM:612530 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Delayed eruption of primary teeth |
ORPHA:90322 |
49,Xxxxy Syndrome |
|
Holoprosencephaly |
ORPHA:96264 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Iris coloboma |
OMIM:605627 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Holoprosencephaly, Semilobar holoprosencephaly |
ORPHA:556955 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI, Microphthalmia |
OMIM:611134 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Failure of eruption of permanent teeth, Anosmia, Hyposmia, Microphthalmia, Iris col... |
ORPHA:2250 |
Holoprosencephaly 14 |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:619895 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Elongated supe... |
OMIM:615636 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Arachnoid Cyst |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Microform Holoprosencephaly |
|
Holoprosencephaly |
ORPHA:280200 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalocele |
ORPHA:280195 |
16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly |
ORPHA:261236 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Holoprosencephaly |
OMIM:619879 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microphthalmia, Agenesis of ... |
OMIM:206900 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Aplasia/Hypopla... |
ORPHA:564 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Holoprosencephaly |
OMIM:612651 |
Fibular Hemimelia |
|
Anophthalmia, Spina bifida |
ORPHA:93323 |
Trisomy 18 |
|
Anencephaly, Holoprosencephaly, Spina bifida |
ORPHA:3380 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Holoprosencephaly, Chorioretinal colob... |
ORPHA:141099 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Lobar holoprosencephaly |
OMIM:614701 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Coloboma, Anophthalmia |
OMIM:615877 |
Isolated Exencephaly |
|
Holoprosencephaly |
ORPHA:563612 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Partial agenesis of the corpus callosum, Hol... |
OMIM:610829 |
Cockayne Syndrome Type 1 |
|
Anophthalmia, Delayed eruption of primary teeth |
ORPHA:90321 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Microphthalmia, Syndromic 9 |
|
Neonatal death, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
Holoprosencephaly 3 |
|
Holoprosencephaly |
OMIM:142945 |
Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Aqueductal stenosis, Anosmia, Holoprosencephaly, Chorior... |
ORPHA:138 |
Jacobsen Syndrome |
|
Hydrocephalus, Holoprosencephaly |
OMIM:147791 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Umbilical hernia, Anophthalmia |
ORPHA:1101 |
Pallister-Hall Syndrome |
|
Holoprosencephaly |
OMIM:146510 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Anophthalmia, Hydrocephalus, Myelomeningocele, Umbilical hernia, Chori... |
OMIM:305600 |
Steinfeld Syndrome |
|
Holoprosencephaly |
OMIM:184705 |
Halperin-Birk Syndrome |
|
Semilobar holoprosencephaly |
OMIM:618651 |
Hartsfield Syndrome |
|
Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly |
OMIM:615465 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Mosaic Variegated Aneuploidy Syndrome |
|
Holoprosencephaly |
ORPHA:1052 |
Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Hydrocephalus, Myelomeningocele, Bilateral microphthalmos |
OMIM:219000 |
Smith-Lemli-Opitz Syndrome |
|
Holoprosencephaly |
ORPHA:818 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum |
ORPHA:264200 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia, Agenesis of corpus callosum |
ORPHA:2556 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Anophthalmia, Remnants of the hyaloid vascular system, Persistence of ... |
OMIM:300166 |
Fraser Syndrome |
|
Encephalocele, Death in infancy, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:2052 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Semilobar holoprosencephaly, Lobar holoprosencephaly |
OMIM:618500 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia, Agenesis of corpus callosum |
ORPHA:2538 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Hydrocephalus, True anophthalmia, Death in infancy |
ORPHA:1106 |
Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Holoprosencephaly |
OMIM:270400 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly |
ORPHA:3186 |
Charge Syndrome |
|
Anophthalmia, Anosmia, Unilateral microphthalmos, Coloboma, Umbilical hernia, Retinal coloboma, H... |
OMIM:214800 |
Holoprosencephaly 2 |
|
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:157170 |
Holoprosencephaly 13, X-Linked |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly |
OMIM:301043 |
Monosomy 13Q14 |
|
Holoprosencephaly |
ORPHA:1587 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Holoprosencephaly |
OMIM:618820 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Lobar holoprosencephaly |
ORPHA:468631 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Ring Chromosome 7 Syndrome |
|
Holoprosencephaly |
ORPHA:1449 |
Chromosome 13Q14 Deletion Syndrome |
|
Holoprosencephaly |
OMIM:613884 |
Holoprosencephaly 1 |
|
Ethmocephaly, Alobar holoprosencephaly |
OMIM:236100 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Branchial anomaly, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:113620 |
Slc35A2-Cdg |
|
Lateral ventricle dilatation, Abnormal midbrain morphology, Atrophy/Degeneration affecting the br... |
ORPHA:356961 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Aprosencephaly |
OMIM:601374 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Holoprosencephaly |
OMIM:615948 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Semilobar holoprosencephaly |
OMIM:301044 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly, Microphthalmia, Agenesis... |
OMIM:164210 |
Pallister-Hall Syndrome |
|
Holoprosencephaly |
ORPHA:672 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Semilobar holoprosencephaly |
OMIM:129900 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Coloboma, Anophthalmia |
OMIM:607932 |
Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:107480 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Holoprosencephaly |
ORPHA:95494 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Agenesis of corpus callosum, Abnormal midbrain morphology |
ORPHA:314621 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Optic disc coloboma, Ciliary body coloboma, Chorioretinal coloboma, Microphthalmia,... |
OMIM:309800 |
Japanese Encephalitis |
|
Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology |
ORPHA:79139 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... |
ORPHA:68 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology |
ORPHA:444072 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Cyclopia, Agenesis of corpus ca... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Cyclopia, Agenesis of corpus ca... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Cyclopia, Agenesis of corpus ca... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, Cyclopia, Agenesis of corpus ca... |
ORPHA:93924 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology |
ORPHA:293987 |
Schizencephaly |
|
Agenesis of corpus callosum |
OMIM:269160 |