corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0020145
obsolete developmental defect of the eye (obsolete MONDO:0020145)
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
Graham-Cox syndrome
exact
MRXS28
exact
agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome
related
corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive
exact
corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia
exact
corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia
related
intellectual disability, X-linked, syndromic 28
exact
mental retardation, X-linked, syndromic 28
exact
SPCC63.05