PMC8435705_01
Dysmorphic features and variant analysis. (A) Photographs of our patient at 7 months showed microcephaly, micro/retrognathia, hypertelorism, depressed nasal bridge, low-set ears and hypertrichosis. (B) The proband carried the c.1210C>T variant in ASXL1 (p), leading to a premature stop codon; however, her parents harbored no detectable variants (f and m).
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F1
SD), her length was 60 cm (<-3 SD), and her head circumference was 38.4 cm (<-3 SD). She had microcephaly, hypertrichosis, gothic arch, depressed nasal bridge, hypertelorism, low-set ears, deep palmar creases, bent elbows, contractures of the toes, and hypotonia (Figure 1A). We finally identified one de novo heterozygous variant in the ASXL1 gene, namely, c.1210C>T/p.R404* (NM_015338.6) (Figure 1B).