Presentation
Chen et al., 2017 identified potentially deleterious heterozygous DEAF1 variants in six novel individuals presenting with intellectual disability, motor delay, and autistic behavior. [gene.sfari.org]
Synonyms DEAF1 mutations DEAF1-associated neurodevelopmental disorder DEAF1 related disorders DEAF1 autosomal recessive mutations (subtype) DEAF1 autosomal dominant mutations (subtype) Overview DEAF1-related disorders are neurologic diseases that mainly present [rarediseases.org]
In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. [genecards.org]
"[17] Following the revelation, the city of Hiroshima announced that it would be revoking the Hiroshima Citizens' Award it presented to Samuragochi in 2008.[18] On 7 March 2014, he gave a press conference in Tokyo, appearing in public for the first time [en.wikipedia.org]
Ears
- Normal Hearing
[…] to Samuragochi since 1996 had actually been ghostwritten by Takashi Niigaki, a musician, composer, and part-time lecturer at the Toho Gakuen School of Music in Tokyo.[15][16] Niigaki also said Samuragochi was not deaf and states that Samuragochi has normal [en.wikipedia.org]
Psychiatrical
- Aggressive Behavior
[…] compulsive behavior, and aggressive behavior with striking mood swings and poor eye contact. [gene.sfari.org]
Certain traits and genetic variants such as language difficulties or aggressive behaviors may show up across both types of conditions. And, schizophrenia and bipolar disorders may be comorbid with autism as well as associated conditions. [fdna.health]
- Compulsive Disorder
Medical problems can include sleep disorders, gastrointestinal issues, and seizures. Mental health comorbid conditions often include ADHD (attention deficit hyperactivity disorder), depression, anxiety, and OCD (obsessive compulsive disorder). [fdna.health]
- Compulsive Behavior
compulsive behavior, and aggressive behavior with striking mood swings and poor eye contact. [gene.sfari.org]
- Withdrawn
^ "Composer Mamura Samuragochi angry at news that DVDs of film he scored to be withdrawn from sale" (in Japanese). Japan: Weekly Asahi Geinō. 25 March 2014. Retrieved 30 December 2018. External links[edit] Nippon Columbia profile (in Japanese) [en.wikipedia.org]
Treatment
[…] disorder (known as intellectual disability-epilepsy-extrapyramidal syndrome, or dyskinesia, seizures, and intellectual developmental disorder) and an autosomal dominant DEAF-1 disorder known as autosomal dominant intellectual disability 24.[14387][14388] Treatment [rarediseases.org]
Etiology
PMID: 33705764 Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. [pubmed.ncbi.nlm.nih.gov]