Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
brain
|
| gptkbp:associatedWith |
maternal diabetes
trisomy 18 trisomy 13 mutations in SHH gene |
| gptkbp:cause |
gptkb: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
|
| 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
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
holoprosencephaly
|