Living with Kleefstra Syndrome: A Guide disease
Kleefstra Syndrome, also known as 9q34.3 microdeletion syndrome, is related to kleefstra syndrome 2 and kleefstra syndrome 1, and has symptoms including seizures An important gene associated with Kleefstra Syndrome is EHMT1 (Euchromatic Histone Lysine Methyltransferase 1), and among its related pathways/superpathways are RNA Polymerase I ...
Living with Kabuki Syndrome 2: Manage and Thrive disease
Kabuki Syndrome 2, also known as kabuk2, is related to kabuki syndrome 1 and gastroesophageal reflux, and has symptoms including seizures An important gene associated with Kabuki Syndrome 2 is KDM6A (Lysine Demethylase 6A). Affiliated tissues include breast, heart and kidney, and related phenotypes are atrial septal defect and pulmonic ...
Elevating Quality of Life for GSS Patients disease
Gerstmann-Straussler Disease, also known as gerstmann-straussler-scheinker syndrome, is related to prion disease and gerstmann syndrome, and has symptoms including cerebellar ataxia, muscle rigidity and muscle spasticity. An important gene associated with Gerstmann-Straussler Disease is PRNP (Prion Protein), and among its related ...
Joubert Syndrome: Lifestyle Considerations disease
Joubert Syndrome 1, also known as joubert syndrome, is related to joubert syndrome 3 and coach syndrome 1, and has symptoms including ataxia An important gene associated with Joubert Syndrome 1 is INPP5E (Inositol Polyphosphate-5-Phosphatase E), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and ...
Anodontia: Dental Health and Lifestyle Tips disease
Anodontia, also known as total anodontia of permanent and deciduous teeth, is related to ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant and tooth agenesis, selective, 1. An important gene associated with Anodontia is PAX9 (Paired Box 9), and among its related pathways/superpathways are Signal Transduction and ...