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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 3"
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Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Simmers R, Goodwin A, Al Saif H, Couser N. Simmers R, et al. Ophthalmic Genet. 2022 Oct;43(5):699-702. doi: 10.1080/13816810.2022.2089358. Epub 2022 Jun 27. Ophthalmic Genet. 2022. PMID: 35762114
BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS), first described in 1993, is a rare autosomal dominant disease caused by pathogenic variants in the SMARCA2 gene on chromosome 9p24.3. NCBRS typically presents with dysmorphic facial features, seizures, int …
BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS), first described in 1993, is a rare autosomal dominant disease caused by pat …
Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.
Nan H, Chu M, Zhang J, Jiang D, Wang Y, Wu L. Nan H, et al. Mol Genet Genomic Med. 2024 Mar;12(3):e2398. doi: 10.1002/mgg3.2398. Mol Genet Genomic Med. 2024. PMID: 38444259 Free PMC article. Review.
It is characterized by intellectual disability, developmental delay, and multisystemic abnormalities. ...The proband, a 31-year-old female, presented with abnormal eating habits, recurrent seizures, language impairment, and intellectual disability. Her …
It is characterized by intellectual disability, developmental delay, and multisystemic abnormalities. ...The proband, a 31-yea …
Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
Xin C, Wang C, Wang Y, Zhao J, Wang L, Li R, Liu J. Xin C, et al. BMC Med Genet. 2018 Feb 27;19(1):31. doi: 10.1186/s12881-018-0545-5. BMC Med Genet. 2018. PMID: 29482518 Free PMC article.
BACKGROUND: Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple congenital anomalies and intellectual disabilities, which is inherited in an autosomal dominant manner. ...
BACKGROUND: Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple congenital anomalies and intellectual disabili …