H2BFWT
H2BFWT: An Overview
Description
H2BFWT (Histone H2B Fertile Crescent Mutations With Intellectual Disability Syndrome) is a rare genetic disorder characterized by intellectual disability, developmental delays, and distinctive facial features. It is caused by mutations in the H2BFWT gene, which encodes a protein that plays a role in chromatin remodeling.
Associated Diseases
H2BFWT is associated with a range of developmental abnormalities, including:
- Intellectual disability
- Developmental delays in speech, language, and motor skills
- Microcephaly (small head circumference)
- Facial dysmorphism, such as a prominent forehead, arched eyebrows, and a flattened midface
- Autism spectrum disorder
- Seizures
Did you Know ?
H2BFWT is an extremely rare disorder, affecting less than 1 in 1,000,000 individuals.
