Microhydranencephaly, X-Linked |
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Intrauterine growth retardation, Holoprosencephaly |
OMIM:306990 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Acalvaria |
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Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Vissers-Bodmer Syndrome |
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Intrauterine growth retardation, Short stature, Holoprosencephaly |
OMIM:619033 |
Holoprosencephaly 5 |
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Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosenceph... |
OMIM:609637 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
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Hydranencephaly, Hydrocephalus, Holoprosencephaly |
OMIM:617967 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
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Holoprosencephaly |
ORPHA:2523 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Mental retardation, x-linked, syndromic, Turner type |
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Holoprosencephaly |
OMIM:300706 |
Microphthalmia, Isolated, With Coloboma 5 |
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Holoprosencephaly |
OMIM:611638 |
Myelopathy, Htlv-1-Associated |
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Myelopathy |
OMIM:159580 |
Muscle-Eye-Brain Disease |
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Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Hartsfield Syndrome |
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Encephalocele, Intrauterine growth retardation, Lobar holoprosencephaly |
ORPHA:2117 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... |
ORPHA:1908 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Hydranencephaly, Intrauterine growth retardation, Holoprosencephaly |
ORPHA:2570 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Thanatophoric Dysplasia Type 2 |
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Encephalocele, Short stature, Hydrocephalus, Patent ductus arteriosus, Holoprosencephaly |
ORPHA:93274 |
Distal Deletion 13Q |
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Encephalocele, Anencephaly, Holoprosencephaly, Short stature |
ORPHA:1590 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
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Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Holoprosencephaly 11 |
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Holoprosencephaly |
OMIM:614226 |
Lambotte Syndrome |
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Intrauterine growth retardation, Semilobar holoprosencephaly |
OMIM:245552 |
Ring Chromosome 21 Syndrome |
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Short stature, Holoprosencephaly |
ORPHA:1445 |
Distal Monosomy 7Q36 |
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Short stature, Holoprosencephaly |
ORPHA:1636 |
Triploidy |
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Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Microtia-Anotia |
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Holoprosencephaly |
OMIM:600674 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Patent ductus arteriosus, Hydrocephalus, Growth delay, Holoprosencephaly |
ORPHA:77298 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
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Semilobar holoprosencephaly |
OMIM:601370 |
Chromosome 3Q13.31 Deletion Syndrome |
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Alobar holoprosencephaly |
OMIM:615433 |
1Q41Q42 Microdeletion Syndrome |
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Growth delay, Short stature, Holoprosencephaly |
ORPHA:250999 |
Monosomy 18P |
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Short stature, Holoprosencephaly |
ORPHA:1598 |
Microtia |
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Holoprosencephaly |
ORPHA:83463 |
Iniencephaly |
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Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... |
ORPHA:63259 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
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Holoprosencephaly |
ORPHA:2165 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Holoprosencephaly-Craniosynostosis Syndrome |
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Short stature, Holoprosencephaly |
ORPHA:2163 |
Solitary Median Maxillary Central Incisor |
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Short stature, Holoprosencephaly |
OMIM:147250 |
Agnathia-Otocephaly Complex |
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Holoprosencephaly |
OMIM:202650 |
Short-Rib Thoracic Dysplasia 12 |
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Patent ductus arteriosus, Hydrocephalus, Anencephaly, Holoprosencephaly, Neonatal death, Intraute... |
OMIM:269860 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Intrauterine growth retardation, Holoprosencephaly, Semilobar holoprosencephaly |
ORPHA:556955 |
Microform Holoprosencephaly |
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Intrauterine growth retardation, Short stature, Holoprosencephaly |
ORPHA:280200 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Holoprosencephaly |
ORPHA:990 |
Chromosome 1Q41-Q42 Deletion Syndrome |
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Short stature, Holoprosencephaly |
OMIM:612530 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
Pseudotrisomy 13 Syndrome |
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Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
Trisomy 18 |
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Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosencephaly, Intrauterine growth re... |
ORPHA:3380 |
49,Xxxxy Syndrome |
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Short stature, Holoprosencephaly |
ORPHA:96264 |
Holoprosencephaly 4 |
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Semilobar holoprosencephaly |
OMIM:142946 |
Meckel Syndrome 14 |
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Occipital encephalocele, Holoprosencephaly |
OMIM:619879 |
Arachnoid Cyst |
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Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Halperin-Birk Syndrome |
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Umbilical hernia, Intrauterine growth retardation, Semilobar holoprosencephaly |
OMIM:618651 |
16P13.11 Microdeletion Syndrome |
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Short stature, Holoprosencephaly |
ORPHA:261236 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Pallister-Hall Syndrome |
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Short stature, Patent ductus arteriosus, Holoprosencephaly, Neonatal death, Intrauterine growth r... |
OMIM:146510 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Encephalocele, Umbilical hernia, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Short stature, Lobar holoprosencephaly |
OMIM:614701 |
Holoprosencephaly |
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Encephalocele, Hydrocephalus, Spinal dysraphism, Branchial anomaly, Holoprosencephaly |
ORPHA:2162 |
Holoprosencephaly 14 |
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Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:619895 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
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Lobar holoprosencephaly, Growth delay, Neonatal death, Intrauterine growth retardation, Semilobar... |
OMIM:618500 |
Jacobsen Syndrome |
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Intrauterine growth retardation, Hydrocephalus, Holoprosencephaly |
OMIM:147791 |
Endocrine-Cerebroosteodysplasia |
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Hydrocephalus, Holoprosencephaly |
OMIM:612651 |
Mosaic Variegated Aneuploidy Syndrome |
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Growth delay, Intrauterine growth retardation, Short stature, Holoprosencephaly |
ORPHA:1052 |
Monosomy 13Q14 |
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Intrauterine growth retardation, Short stature, Holoprosencephaly |
ORPHA:1587 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect |
OMIM:119580 |
Isolated Exencephaly |
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Holoprosencephaly |
ORPHA:563612 |
Holoprosencephaly 3 |
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Holoprosencephaly |
OMIM:142945 |
Hartsfield Syndrome |
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Growth delay, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly |
OMIM:615465 |
Smith-Lemli-Opitz Syndrome |
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Rhizomelia, Short stature, Patent ductus arteriosus, Growth delay, Holoprosencephaly, Intrauterin... |
ORPHA:818 |
Steinfeld Syndrome |
|
Holoprosencephaly |
OMIM:184705 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Chromosome 13Q14 Deletion Syndrome |
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Growth delay, Umbilical hernia, Holoprosencephaly |
OMIM:613884 |
Holoprosencephaly 9 |
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Hydrocephalus, Short stature, Holoprosencephaly |
OMIM:610829 |
Charge Syndrome |
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Short stature, Aqueductal stenosis, Postnatal growth retardation, Patent ductus arteriosus, Holop... |
ORPHA:138 |
Smith-Lemli-Opitz Syndrome |
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Short stature, Patent ductus arteriosus, Hydrocephalus, Growth delay, Holoprosencephaly, Intraute... |
OMIM:270400 |
Holoprosencephaly 13, X-Linked |
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Patent ductus arteriosus, Semilobar holoprosencephaly, Alobar holoprosencephaly |
OMIM:301043 |
Meckel Syndrome |
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Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly |
ORPHA:564 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Intrauterine growth retardation, Severe short stature, Lobar holoprosencephaly |
ORPHA:468631 |
Ring Chromosome 7 Syndrome |
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Severe intrauterine growth retardation, Short stature, Holoprosencephaly |
ORPHA:1449 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Holoprosencephaly |
ORPHA:3186 |
Orofaciodigital Syndrome Xiv |
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Occipital encephalocele, Patent ductus arteriosus, Holoprosencephaly |
OMIM:615948 |
Genitourinary And/Or Brain Malformation Syndrome |
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Holoprosencephaly |
OMIM:618820 |
Holoprosencephaly 1 |
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Ethmocephaly, Short stature, Alobar holoprosencephaly |
OMIM:236100 |
Holoprosencephaly 2 |
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Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:157170 |
Proboscis Lateralis |
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Patent ductus arteriosus, Holoprosencephaly |
ORPHA:141099 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Growth delay, Intrauterine growth retardation, Semilobar holoprosencephaly |
OMIM:301044 |
Pallister-Hall Syndrome |
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Short stature, Patent ductus arteriosus, Holoprosencephaly, Umbilical hernia, Intrauterine growth... |
ORPHA:672 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Growth delay, Pituitary dwarfism, Holoprosencephaly, Delayed puberty |
ORPHA:95494 |
Charge Syndrome |
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Postnatal growth retardation, Patent ductus arteriosus, Holoprosencephaly, Delayed puberty, Umbil... |
OMIM:214800 |
Townes-Brocks Syndrome 1 |
|
Umbilical hernia, Hydrocephalus, Holoprosencephaly |
OMIM:107480 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Semilobar holoprosencephaly |
OMIM:129900 |
Semilobar Holoprosencephaly |
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Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93924 |
Septopreoptic Holoprosencephaly |
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Ethmoidal encephalocele |
ORPHA:280195 |
Autosomal Recessive Primary Microcephaly |
|
Growth delay, Short stature |
ORPHA:2512 |
Microcephaly 7, Primary, Autosomal Recessive |
|
|
OMIM:612703 |