Table 2 Frequencies of clinical features in HNRNPU-associated neurodevelopmental disorder.
From: Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
Clinical Features | Frequency (%) in current series (n = 7) | Frequency (%) in Taylor et al. (n = 17) |
|---|---|---|
Seizures | 100 | 100 |
Global developmental delay | 100 | 100 |
Intellectual disability | 100 | 94 |
Dysmorphism | 100 | 94 |
Hypotonia | 100 | 88 |
Neonatal hypotonia | 28 | 65 |
Neonatal feeding difficulties | 14 | 59 |
Autistic features | 57 | 50 |
Cardiac abnormality | 14 | 44 |
Abnormality on brain MRI | 28 | 38 |
