holoprosencephaly

GPTKB entity

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