This website provides information on patients with mutations in the CEP135 gene, including clinical data, molecular data, management and research options.

The disease caused by mutations in the CEP135 gene is a neurodevelopmental disorder characterized by:
•    Primary Microcephaly (Head circumference three standard deviations below the mean corrected for age and sex)
•    Characteristic developmental/facial features, including brain reduced to 1/3 of a normal human and sloping forehead due to reduced cerebral cortical neurons
•    Intellectual disability

Dr. Muhammad Jawad Hassan has significantly advanced the understanding of the mutations and functions of the CEP135 gene through his research. He has published peer-reviewed articles on this topic. These studies provided comprehensive clinical and molecular data on WDR62-related microcephaly and intellectual disability, highlighting phenotypic variability and aiding in diagnosis.

Not all individuals with a mutation in the CEP135 gene have similar expression of these features.

This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CEP135 gene.

Muhammad Jawad Hassan, PhD, Shifa International Hospital, Shifa Tameer e Millat University (STMU), Islamabad, Pakistan, muhammad.jawad@shifa.com.pk

Muhammad Ikram Ullah, PhD, Jouf University, Sakaka, Kingdom of Saudi Arabia, mikramullah@ju.edu.sa