Statements (26)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:affects |
brain
|
gptkbp:associatedWith |
maternal diabetes
trisomy 18 trisomy 13 mutations in SHH gene |
gptkbp:cause |
intellectual disability
seizures developmental delay facial abnormalities |
gptkbp:characterizedBy |
failure of forebrain to divide into two hemispheres
|
gptkbp:diagnosedBy |
gptkb:CT_scan
MRI prenatal ultrasound |
gptkbp:firstDescribed |
1856
|
https://www.w3.org/2000/01/rdf-schema#label |
holoprosencephaly
|
gptkbp:namedAfter |
Greek words for 'whole' and 'forebrain'
|
gptkbp:prevalence |
1 in 10,000 to 20,000 live births
|
gptkbp:subspecies |
alobar holoprosencephaly
lobar holoprosencephaly middle interhemispheric variant semilobar holoprosencephaly |
gptkbp:treatment |
supportive care
|
gptkbp:bfsParent |
gptkb:SHH
gptkb:Hedgehog_signaling_pathway |
gptkbp:bfsLayer |
7
|