Eleven probands were described in Hiatt and Neu, et al. All eleven probands presented with speech problems, including absent speech in seven and speech delay in the remaining four. Ten of the eleven probands are reported to have hypotonia, with eight unable to walk. Intellectual disability was specifically noted for 8 of 11, (but not ruled out for the remaining three). Birth measurements were available for nine probands and three (33%) reported either length or weight (or both) at less than the tenth percentile. Height and weight measurements at last examination were available for all probands (except for height in one). Six of ten probands (60%) were reported to have heights less than the 10th percentile at last examination, while eight of eleven (73%) were reported to have weights less than the 10th percentile. Three probands had head circumference measurements greater than or equal to the 90th percentile at last evaluation. Nine of eleven probands were reported to have dysmorphic facial features. Several consistent features were observed, including a broad, prominent forehead, horizontal eyebrows, epicanthus, mild ptosis, slightly anteverted nares, wide nasal bridge, short philtrum, thin upper lip vermillion with an exaggerated Cupid’s bow, pointed chin, and low-set ears with increased posterior angulation. Additional common but variable features were observed: seizures were present in most probands (6/11), as were structural brain abnormalities detected by MRI (9/11). Six of eleven probands were reported to have skeletal anomalies such as clinodactyly (3 of 6) and/or 2/3 toe syndactyly (2 of 6). None of the probands are reported to have had cancer. See Hiatt, et al. for additional clinical details for individuals:
https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1007671. Additional variants and their interpretations have also been deposited to ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/?term=RALA%5Bgene%5D&redir=gene).
RALA