MBD5

Phenotypes

Human ciliopathy phenotype:

Severe epilepsy and intellectual disability associated with MBD5 disruption.

Ciliopathy associations

• Intellectual Developmental Disorder with Epilepsy

Function

MBD5 haploinsufficiency disrupts primary cilium-related processes during early cortical development. Patient-derived neural progenitor cells show decreased length and number of primary cilia (Martins et al. 2023, PMID 37628781).