Table 1.
Summary of clinical information and mutation detection rates for subgroups of the cohort.
Fig 1.
Photographs of patient #15 (MECP2 mutation).
The patient at 3 years and 6 months. The patient was diagnosed with a de novo mutation p.(Arg133Cys) in MECP2. Note arched eyebrows with slight synophrys, short anteverted nose, thin upper lip and smooth long philtrum.
Fig 2.
Photographs of patients #29 (MED13L mutation).
The patient at 4 years and 2 months of age. He was diagnosed with MED13L syndrome. Note long eyelashes, broad nasal tip and open mouth appearance as well as preauricular tags.
Fig 3.
Sequence coverage and occurrence of ADAMTSL2 variants.
The data is shown in the UCSC genome browser “multi region view” (http://genome.ucsc.edu), which displays exons in full length (dark blue boxes), flanked by 50 bp of intronic sequence (dark blue vertical line). The scale on top refers to the condensed sequence shown here. The full ADAMTSL2 gene comprises 40.6 kb of genomic DNA (chr9:136399975–136440641, hg19). Green: read coverage, target position and variants identified in this cohort; black: corresponding data in gnomAD.