Halperin-Birk syndrome (Genetics 🧬)

Halperin-Birk syndrome is a rare autosomal recessive neurodevelopmental disorder caused by a null mutation in the SEC31A gene. Signs and symptoms include intrauterine growth retardation, marked developmental delay, spastic quadriplegia with profound contractures, dysmorphism, and optic nerve atrophy with no eye fixation. Brain MRI demon...

https://en.wikipedia.org/wiki/Halperin-Birk_syndrome

#HalperinBirkSyndrome #Genetics #RareDiseases #CongenitalDisorders