Results 1 -
2
of
2
for
Intellectual "disability," autosomal recessive 57
- ... mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. ...
- ... upper limbs (paraplegia), impaired speech (dysarthria), and mild intellectual disability. These signs and symptoms typically begin in childhood. ... GJC2 LYMPHATIC MALFORMATION 3; LMPHM3 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 NCBI Gene ClinVar Gotoh L, Inoue K, ...
