craniosynostosis-intellectual disability-clefting syndrome
A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0001071
intellectual disability
excluded_subClassOf
MONDO:0001476
coloboma
excluded_subClassOf
MONDO:0002473
cystic kidney disease
excluded_subClassOf
MONDO:0004747
cleft lip
excluded_subClassOf
MONDO:0016064
cleft palate
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
Baraitser Rodeck garner syndrome
exact
craniosynostosis intellectual disability clefting syndrome
related
craniosynostosis mental retardation clefting syndrome
related
craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose
related
craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose
related
craniosynostosis-intellectual disability-clefting syndrome
exact
craniosynostosis-mental retardation-clefting syndrome
exact