| Remarks |
Unaffected carrier mother of affected child (GM26611 B-lymphocyte; GM26612 fibroblast); history of speech delay until age 3; Chrohn's disease; genetic testing revealed heterozygous mutation c.1201A>T (p.Arg401X) in the NGLY1 gene; half-brother has ADHD, speech/sensory integration problems, delayed speech, a stutter, and decreased reflexes in lower extremities; mother has lung fibrosis, CREST syndrome, and Raynaud's disease; grandfather with epilepsy but without intellectual disability; see GM26614 for fibroblast. |