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Intellectual "disability," autosomal dominant 1
- ... of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen over time. Autosomal recessive cutis laxa tends to be more severe than autosomal dominant.Most ALDH18A1 gene variants involved in cutis laxa ...
- ... gene have been found in several people with autosomal dominant nocturnal frontal lobe ... disability. The KCNT1 gene variants involved in this condition ...
- ... DKFZp779C159 FEOM FEOM1 Fibrosis of extraocular muscles, congenital, 1, autosomal dominant fibrosis of the extraocular muscles, congenital, 1 FLJ20052 ...
- ... variants cause a form of the condition called autosomal dominant cutis laxa type 1 (ADCL1), which is characterized by loose, sagging skin; ... Urban Z. New insights into the pathogenesis of autosomal-dominant cutis laxa with ... Epub 2011 Mar 1. Citation on PubMed or Free article on PubMed ...
- ... 63.11.1605. Citation on PubMed Segawa M. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). Chang ... Hanna MG, Davis MB, Wood NW, Bhatia KP. Autosomal-dominant GTPCH1-deficient DRD: clinical ... 2009 Mar 29. Citation on PubMed
- ... Bueno MR, Zatz M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet. 2000 May 15; ...
- ... Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan;15(1):62-9. doi: 10.1038/ng0197-62. Citation ...
- ... syndrome. Am J Hum Genet. 2001 Jul;69(1):67-74. doi: 10.1086/321271. Epub 2001 May 16. Citation on PubMed or Free article on PubMed Central Kim JW, Simmer JP, Lin BP, Hu JC. Novel MSX1 frameshift causes autosomal-dominant oligodontia. J Dent Res. 2006 Mar;85(3): ...
- ... containing 6 TBC1 domain family member 24 isoform 1 TBC1 domain family member 24 isoform 2 TLDC6 ... SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul;35( ...
- ... have a particular combination of additional features, including intellectual disability, speech problems, anxiety, and an unusually small head ( ... signs and symptoms is sometimes called DYRK1A-related intellectual disability syndrome.DYRK1A gene mutations result in loss of ...
