https://rarediseases.info.nih.gov/diseases/17575/colobomatous-microphthalmia-obesity-hypogenitalism-intellectual-disability-syndrome
Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome | About...
Find symptoms and other information about Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome.
intellectual disabilityobesitysyndrome
https://blogs.bmj.com/jmg/2025/12/09/intragenic-loss-of-function-variants-in-transcription-factors-maz-foxp1-and-sin3b-in-colobomatous-microphthalmia/
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1, and SIN3B in colobomatous...
Feb 22, 2026 - Ocular coloboma is a rare developmental eye disorder that can result in childhood blindness. Despite numerous genes being associated with coloboma, many cases...
loss of function