Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
ORPHA:52055· ICD-10 Q87.8
Definition
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is 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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal