Links
[1] http://www.omim.org/entry/611549
[2] https://disorders.eyes.arizona.edu/disorders/hypotonia-infantile-psychomotor-retardation-and-characteristic-facies-2
[3] http://omim.org/entry/616801
[4] https://disorders.eyes.arizona.edu/disorders/hypotonia-infantile-psychomotor-retardation-and-characteristic-facies-3
[5] http://omim.org/entry/616900
[6] https://disorders.eyes.arizona.edu/references/mutations-nalcn-cause-autosomal-recessive-syndrome-severe-hypotonia-speech-impairment-and
[7] https://disorders.eyes.arizona.edu/references/dysmorphic-face-two-siblings-infantile-neuroaxonal-dystrophy