Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida, Hypertelorism |
ORPHA:945 |
Holoprosencephaly 5 |
|
Syntelencephaly, Hypertelorism, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly,... |
OMIM:609637 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Proptosis, Holoprosencephaly, Hypertelorism |
ORPHA:2165 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly |
OMIM:617967 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Iris coloboma, Chorioretinal coloboma |
OMIM:611638 |
Solitary Median Maxillary Central Incisor |
|
Coloboma, Cyclopia, Holoprosencephaly, Hypotelorism |
OMIM:147250 |
Distal Deletion 13Q |
|
Encephalocele, Hypertelorism, Anencephaly, Holoprosencephaly, Iris coloboma |
ORPHA:1590 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Hypotelorism, Holoprosencephaly, Cyclopia |
OMIM:264480 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Coloboma, Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly, Hypertelorism |
ORPHA:2117 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Deeply set eye, Holoprosencephaly |
ORPHA:2570 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hypertelorism, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Proptos... |
ORPHA:1908 |
Holoprosencephaly 11 |
|
Proptosis, Holoprosencephaly, Hypotelorism |
OMIM:614226 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Cyclopia, Holoprosencephaly |
ORPHA:990 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Proptosis, Holoprosencephaly |
ORPHA:93274 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Microform Holoprosencephaly |
|
Holoprosencephaly, Cyclopia, Iris coloboma, Hypotelorism |
ORPHA:280200 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Hypotelorism, Holoprosencephaly, Umbilical hernia, Cyclopia |
ORPHA:2166 |
Trisomy 18 |
|
Spina bifida, Hypertelorism, Anencephaly, Holoprosencephaly, Cyclopia, Iris coloboma |
ORPHA:3380 |
Holoprosencephaly |
|
Encephalocele, Hypertelorism, Hydrocephalus, Hypotelorism, Spinal dysraphism, Deeply set eye, Bra... |
ORPHA:2162 |
Triploidy |
|
Hypertelorism, Hydrocephalus, Meningocele, Holoprosencephaly, Iris coloboma |
ORPHA:3376 |
Holoprosencephaly 3 |
|
Cyclopia, Proptosis, Holoprosencephaly, Hypotelorism |
OMIM:142945 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly |
OMIM:619033 |
Holoprosencephaly 14 |
|
Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Cyclopia |
OMIM:619895 |
16P13.11 Microdeletion Syndrome |
|
Cyclopia, Holoprosencephaly |
ORPHA:261236 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Hypertelorism |
OMIM:615433 |
Joubert Syndrome 16 |
|
Encephalocele, Coloboma, Molar tooth sign on MRI, Hypertelorism |
OMIM:614465 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Hypotelorism, Proptosis, Holop... |
OMIM:157170 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Hypotelorism, Neural tube defect, Cyclopia |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Hypotelorism, Neural tube defect, Cyclopia |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Hypotelorism, Neural tube defect, Cyclopia |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Abnormal brainstem morphology, Hypotelorism, Neural tube defect, Cyclopia |
ORPHA:93924 |
Ring Chromosome 21 Syndrome |
|
Holoprosencephaly |
ORPHA:1445 |
Distal Monosomy 7Q36 |
|
Holoprosencephaly |
ORPHA:1636 |
1Q41Q42 Microdeletion Syndrome |
|
Deeply set eye, Holoprosencephaly, Hypotelorism |
ORPHA:250999 |
Holoprosencephaly 7 |
|
Hypertelorism, Alobar holoprosencephaly, Hydrocephalus, Hypotelorism, Lobar holoprosencephaly, Hy... |
OMIM:610828 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Cyclopia, Iris coloboma, Hypotelorism |
ORPHA:3186 |
Lambotte Syndrome |
|
Semilobar holoprosencephaly, Hypertelorism |
OMIM:245552 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Coloboma, Exencephaly |
OMIM:614464 |
Holoprosencephaly 13, X-Linked |
|
Cyclopia, Semilobar holoprosencephaly, Alobar holoprosencephaly |
OMIM:301043 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Deeply set eye, Hypertelorism, Holoprosencephaly, Hypotelorism |
OMIM:612530 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Holoprosencephaly |
OMIM:253800 |
Proboscis Lateralis |
|
Hypertelorism, Optic disc coloboma, Proptosis, Holoprosencephaly, Chorioretinal coloboma, Cyclopi... |
ORPHA:141099 |
Monosomy 18P |
|
Holoprosencephaly |
ORPHA:1598 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly, Iris coloboma |
ORPHA:77298 |
Holoprosencephaly 1 |
|
Cyclopia, Ethmocephaly, Alobar holoprosencephaly, Hypotelorism |
OMIM:236100 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Holoprosencephaly, Hypotelorism |
ORPHA:2163 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Holoprosencephaly, Hypertelorism |
OMIM:619879 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Anencephaly |
OMIM:614120 |
49,Xxxxy Syndrome |
|
Holoprosencephaly, Hypertelorism |
ORPHA:96264 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:617562 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Holoprosencephaly, Hypertelorism |
OMIM:269860 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Agnathia-Otocephaly Complex |
|
Holoprosencephaly |
OMIM:202650 |
Arachnoid Cyst |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalocele |
ORPHA:280195 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Semilobar holoprosencephaly |
OMIM:601370 |
Endocrine-Cerebroosteodysplasia |
|
Deeply set eye, Hydrocephalus, Holoprosencephaly, Hypotelorism |
OMIM:612651 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Hypertelorism, Lobar holoprosencephaly, Hypotelorism |
OMIM:614701 |
Holoprosencephaly 4 |
|
Semilobar holoprosencephaly, Hypotelorism |
OMIM:142946 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Chromosome 13Q14 Deletion Syndrome |
|
Hypotelorism, Holoprosencephaly, Chorioretinal coloboma, Umbilical hernia, Iris coloboma |
OMIM:613884 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Semilobar holoprosencephaly, Holoprosencephaly, Hypotelorism |
ORPHA:556955 |
Jacobsen Syndrome |
|
Hypertelorism, Hydrocephalus, Holoprosencephaly, Chorioretinal coloboma, Iris coloboma |
OMIM:147791 |
Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
Halperin-Birk Syndrome |
|
Umbilical hernia, Semilobar holoprosencephaly |
OMIM:618651 |
Steinfeld Syndrome |
|
Holoprosencephaly, Retinal coloboma, Iris coloboma |
OMIM:184705 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI |
OMIM:611134 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Optic disc coloboma, Retinal coloboma, Holoprosencephaly, Molar tooth si... |
OMIM:615948 |
Isolated Exencephaly |
|
Proptosis, Holoprosencephaly |
ORPHA:563612 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Hypotelorism, Lobar holoprosencephaly, P... |
ORPHA:468631 |
Hartsfield Syndrome |
|
Hypertelorism, Alobar holoprosencephaly, Lobar holoprosencephaly, Hypotelorism, Semilobar holopro... |
OMIM:615465 |
Meckel Syndrome |
|
Encephalocele, Hypertelorism, Hydrocephalus, Anencephaly, Lobar holoprosencephaly |
ORPHA:564 |
Smith-Lemli-Opitz Syndrome |
|
Holoprosencephaly, Proptosis, Iris coloboma, Hypertelorism |
ORPHA:818 |
Pallister-Hall Syndrome |
|
Holoprosencephaly |
OMIM:146510 |
Monosomy 13Q14 |
|
Holoprosencephaly, Iris coloboma, Hypertelorism |
ORPHA:1587 |
Charge Syndrome |
|
Hypertelorism, Aqueductal stenosis, Holoprosencephaly, Chorioretinal coloboma, Iris coloboma |
ORPHA:138 |
Holoprosencephaly 9 |
|
Hydrocephalus, Holoprosencephaly, Hypotelorism |
OMIM:610829 |
Mosaic Variegated Aneuploidy Syndrome |
|
Holoprosencephaly |
ORPHA:1052 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Semilobar holoprosencephaly, Lobar holoprosencephaly, Hypotelorism |
OMIM:618500 |
Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Holoprosencephaly, Hypertelorism |
OMIM:270400 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Holoprosencephaly, Hypertelorism |
OMIM:618820 |
Ring Chromosome 7 Syndrome |
|
Holoprosencephaly, Hypotelorism |
ORPHA:1449 |
Charge Syndrome |
|
Hypertelorism, Coloboma, Retinal coloboma, Holoprosencephaly, Umbilical hernia, Iris coloboma |
OMIM:214800 |
Townes-Brocks Syndrome 1 |
|
Umbilical hernia, Hydrocephalus, Holoprosencephaly, Chorioretinal coloboma |
OMIM:107480 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Deeply set eye, Semilobar holoprosencephaly, Hypotelorism |
OMIM:301044 |
Pallister-Hall Syndrome |
|
Umbilical hernia, Holoprosencephaly, Hypertelorism |
ORPHA:672 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology, Hypertelorism |
ORPHA:314621 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Semilobar holoprosencephaly, Hypertelorism |
OMIM:129900 |
Slc35A2-Cdg |
|
Abnormal midbrain morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:356961 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Holoprosencephaly |
ORPHA:95494 |
Japanese Encephalitis |
|
Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology |
ORPHA:79139 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology |
ORPHA:444072 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal brainstem MRI signal intensity, Abnormal pons morphology, Abnormal medulla oblongata mor... |
ORPHA:68 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Hypertelorism |
ORPHA:293987 |