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Intellectual "disability," autosomal dominant 3
- ... with the normal function of cells. Since cullin-3 is produced in nerve cells throughout the brain, it is likely that ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... TUBA1A gene, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered ... ...
- ... people with MCTT syndrome have mild to moderate intellectual disability. ... able to walk by age 2 or 3. However, they often need help with fine-motor ...
- ... syndrome. ACTB ... BRWS Cerebro-frontofacial syndrome, type 3 Fryns-Aftimos syndrome Iris coloboma with ptosis, hypertelorism, ...
- ... condition often have at least two of these three major features.Other signs ... intellectual disability or learning problems have been reported in about ...
- ... Black-Ziegelbein EA, Smith RJ. TBC1D24 mutation causes autosomal-dominant ... Genet C Semin Med Genet. 2014 Sep;166C(3):327-32. doi: 10.1002/ajmg.c.31412. ...
- ... each cell is sufficient to cause the disorder. Autosomal dominant porencephaly type ... Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM. Novel mutations in three families confirm a major role of COL4A1 in ...
- ... delayed in early childhood; for example, an affected 3-year-old child may have bones ... disability. Their development of motor skills, such as sitting ...
- ... have an identified mutation in any of these three genes; the cause of the condition in these individuals may be unidentified mutations ... in the PAFAH1B1 or TUBA1A gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat ... hyperhidrosis).Most individuals with TRPS II have mild intellectual disability. TRPS II is a rare condition; its prevalence ...
