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. Author manuscript; available in PMC: 2022 Jun 27.
Published in final edited form as: Am J Med Genet A. 2020 Dec 29;185(3):990–994. doi: 10.1002/ajmg.a.62049

Table 1.

Phenotype in p.Gly375ArgfsTer3 patients

Publication Patient Age (years) Inheritance Gender DD cognitive delay Age at walking current speech hypotonia Dysmorphism Brain abnormality Other neurobehavior problem
PMID: 27148574 #4 4 de novo F + + 20 mo Single words + − Small Corpus Callosum, loss of posterior ventricular white matter Wide based gait, nystagmus
PMID: 31812316 #1 4 maternal germline mosaicism F + NA NA Absent + + corpus callosum thinning ataxic gait with poor balance, asymmetric bilateral sensorineural hearing loss
#2 Fetus maternal germline mosaicism M NA NA NA NA NA NA fetal hypoplasia of corpus callosum
Current Report* #1 6 NA M + + 24 mo Absent + strabismus, mild unilateral ptosis, peculiar folding of helix and uplifted lobes, flat philtrum, thin upper lip vermillion, high arched palate, flat feats  NA ADHD, aggressive behavior, self-injuries, autistic like behavior
 Current report* #1 12 NA + + Absent + no ptosis but presence of pes cavus Small corpus callosum with increased thinning, posterior Posterior cyst occurrence of tremor, unstable gait and ataxic walk
*

The same patient is presented at two different ages