mental retardation, autosomal dominant, type 5

A form of mental retardation (OMIM:612621) characterised by significantly sub-average general intellectual functioning associated with impaired adaptive behaviour, which first appears in childhood, and accompanied by global developmental delay, delayed motor development, hypotonia, mental retardation, language impairment and, in some, autism.
Molecular pathology
Caused by defects of SYNGAP1, which encodes a major component of the postsynaptic density, a group of proteins associated with NMDA receptors at synapses.

单词	mental retardation, autosomal dominant, type 5
释义	mental retardation, autosomal dominant, type 5 mental retardation, autosomal dominant, type 5 A form of mental retardation (OMIM:612621) characterised by significantly sub-average general intellectual functioning associated with impaired adaptive behaviour, which first appears in childhood, and accompanied by global developmental delay, delayed motor development, hypotonia, mental retardation, language impairment and, in some, autism. Molecular pathology Caused by defects of SYNGAP1, which encodes a major component of the postsynaptic density, a group of proteins associated with NMDA receptors at synapses.
随便看	act service acts for acts from actsg act shoulder to shoulder actsi acts in concert actsip acts/magic/aainet acts mobile domain assembly acts mobile terminal act-so actso acts of agencies of state authority acts of apostles acts of attainder acts of bankruptcy acts of bodies of state administration acts of contrition acts of court acts of god acts of grace acts of hope for the nation foundation acts of parliament acts of pilate