DHX30 variant | Heterozygous missense variants within a HCM (this study) | p.(Ala734Asp) mosaic (this study) | Haploinsufficiency/protein truncating variants (this study) | Homozygous p.(Arg725His) (this study) | Heterozygous p.(Arg908Gln) (this study) | Heterozygous missense variants within a HCM (previous studies: Lessel et al. 2017 and Cross et al. 2020) |
---|---|---|---|---|---|---|
Sex | 11 females/7 males | Female | 1 female/3 males | Male | Female | 8 females/6 males |
Intellectual disability | 18/18 | + | 4/4 | ? | − | 13/13 |
Speech ability | 14/18 non-verbal 4/18 single words | Simple sentences | 20 words to normal speech ability | ? | Normal speech ability | 11/13 non-verbal 2/13 single words |
Motor development delay | 18/18 | + | 4/4 mild | + | − | 14/14 |
Muscular hypotonia | 17/18 | + | 3/4 | + | − | 14/14 |
Gait abnormalities | 10/18 no independent walking 8/18 ataxic | Ataxic gait | 0/4 no independent walking 3/4 ataxic gait | ? | Ataxic gait | 7/13 no independent walking 6/13 ataxic gait |
Feeding difficulties | 15/18 | + | 1/4 | + | − | 11/14 |
Microcephaly | 13/15 | + | 0/4 | − | − | 7/10 |
Joint hypermobility | 13/18 | + | 1/3 | − | − | 6/14 |
Brain MRI anomalies | 11/17 | − | 2/3 | + | + | 10/14 |
Sleep disturbance | 8/18 | + | 2/3 | + | − | 7/12 |
Strabismus | 8/18 | − | 2/4 | − | + | 6/14 |
Autistic features | 4/14 | + | 0/3 | ? | − | 7/12 |
Seizures | 3/18 | + | 2/3 | Severe | − | 3/14 |