frontonasal dysplasia

GPTKB entity

Statements (25)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkb:craniofacial_syndrome
gptkbp:affects skull
face
gptkbp:associatedWith gptkb:ALX1
ALX3
ALX4
gptkbp:causedBy gptkb:genetic_disorder
gptkbp:firstDescribed 1967
gptkbp:frequency rare
gptkbp:inheritance autosomal dominant
autosomal recessive
gptkbp:OMIM 136760
gptkbp:symptom hypertelorism
agenesis of corpus callosum
broad nasal root
cleft nose
median facial cleft
widow's peak hairline
gptkbp:synonym frontonasal dysostosis
median cleft face syndrome
gptkbp:treatment surgical correction
gptkbp:bfsParent gptkb:ALX1
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label frontonasal dysplasia