Links
[1] http://omim.org/entry/616899
[2] https://disorders.eyes.arizona.edu/disorders/hypotonia-infantile-psychomotor-retardation-and-characteristic-facies-2
[3] http://omim.org/entry/616801
[4] http://omim.org/entry/612636?search=unc80&highlight=unc80
[5] https://disorders.eyes.arizona.edu/disorders/hypotonia-infantile-psychomotor-retardation-and-characteristic-facies-1
[6] http://omim.org/entry/615419
[7] http://omim.org/entry/611549
[8] https://disorders.eyes.arizona.edu/references/mutations-tbck-encoding-tbc1-domain-containing-kinase-lead-recognizable-syndrome
[9] https://disorders.eyes.arizona.edu/references/recessive-inactivating-mutations-tbck-encoding-rab-gtpase-activating-protein-cause-severe