This website provides information on patients with mutations in the BPTF gene, including clinical data, molecular data, management, and research options.
The syndrome caused by point mutations or copy-number deletions in the BPTF gene is called Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (OMIM # 617755). It is a multisystem disorder characterized by developmental delay (DD)/intellectual disability (ID), speech delay, short stature, postnatal microcephaly, congenital malformations, skeletal (distal limb) anomalies, and subtle dysmorphic facial features. Not all individuals with variants in the BPTF gene have all these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the BPTF gene.
Pawel Stankiewicz, M.D., Ph.D., Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA, firstname.lastname@example.org
Yaping Yang, Ph.D., Director, NGS Division, Baylor Genetics, Dept. of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX, USA, email@example.com