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Results 51 - 60 of 126 for Intellectual "disability," autosomal dominant 3
  1. MN1 C-terminal truncation syndrome 
    ... 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 ...
    https://medlineplus.gov/.../mn1-c-terminal-truncation-syndrome - Genetics
  2. CUL3-related neurodevelopmental disorder 
    ... 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 ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  3. Lissencephaly with cerebellar hypoplasia 
    ... TUBA1A gene, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered ... ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  4. Baraitser-Winter syndrome 
    ... syndrome. ACTB ... BRWS Cerebro-frontofacial syndrome, type 3 Fryns-Aftimos syndrome Iris coloboma with ptosis, hypertelorism, ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
  5. Townes-Brocks Syndrome 
    ... condition often have at least two of these three major features.Other signs ... intellectual disability or learning problems have been reported in about ...
    https://medlineplus.gov/genetics/condition/townes-brocks-syndrome - Genetics
  6. TBC1D24 gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  7. Familial porencephaly 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/familial-porencephaly - Genetics
  8. Floating-Harbor syndrome 
    ... delayed in early childhood; for example, an affected 3-year-old child may have bones ... disability. Their development of motor skills, such as sitting ...
    https://medlineplus.gov/genetics/condition/floating-harbor-syndrome - Genetics
  9. Isolated lissencephaly sequence 
    ... 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 ...
    https://medlineplus.gov/.../isolated-lissencephaly-sequence - Genetics
  10. Rubinstein-Taybi syndrome 
    ... condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first ... birth. Abnormal brain development is thought to underlie intellectual disability in people with Rubinstein-Taybi syndrome. Researchers have ...
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome - Genetics
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