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Intellectual "disability," autosomal dominant 16
- ... 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 ...
- ... 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): ...
- ... Apr 1;347 Pt 1(Pt 1):1-16. Citation on PubMed or Free article on PubMed Central Trender-Gerhard I, Sweeney MG, Schwingenschuh P, Mir P, Edwards MJ, Gerhard A, Polke JM, Hanna MG, Davis MB, Wood NW, Bhatia KP. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term ...
- ... ptosis). In addition, people with CFEOM3 can have intellectual disability or other neurological problems.Each of the known ... FEOM FEOM1 Fibrosis of extraocular muscles, congenital, 1, autosomal dominant fibrosis of the extraocular muscles, congenital, 1 FLJ20052 ...
- ... an unusually large head size (macrocephaly), tall stature, intellectual disability, seizures, ataxia, and other health problems. Researchers are ... encephalopathy caused by CACNA1A gene variants often experience intellectual disability, ataxia, nystagmus, and weak muscle tone (hypotonia). Studies ...
- ... short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people ...
