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Intellectual "disability," autosomal dominant 3
- ... 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 ...
- ... 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 ...
- ... large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features. These features ... the relationship between these brain abnormalities and the intellectual disability associated with Weaver syndrome is unclear.Researchers suggest ...
- ... recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. Epilepsy begins in childhood, typically between ages 6 ...
- ... condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy). ...
- ... heart abnormalities, urinary tract abnormalities, moderate to severe intellectual disability, abnormal muscle tone, and a distinctive facial appearance. ...
- ... after birth, subtle differences in facial features, and intellectual disability.Individuals with DNMT3A overgrowth syndrome are often longer ... upper front teeth are often larger than normal.Intellectual disability in DNMT3A overgrowth syndrome ranges from mild to ...
- ... growth and speech development, and some have mild intellectual disability or learning disabilities. Older affected individuals have difficulty ... the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler ...
- ... 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 ...
- ... muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability.A key feature of centronuclear myopathy is the ... the DNM2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ...
