The first signs of PREPLdeficiency are often present already in the newborn. The baby is weaker than normal and is sometimes called floppy. Drooping eye lids are often noticed. Sucking is too weak and it is difficult to feed the baby. Tube feeding can be necessary. The weakness and feeding problems continue in the first years and start to improve gradually afterwards. Mean age at walking is 18 months, with large differences between individual children.
In childhood, many children with PREPLdeficiency develop an increased appetite for food and risk to become overweight. In many children growth also slows down during childhood due to a deficiency in growth hormone. This can be observed on the growth chart of the child. When children with PREPLdeficiency grow older, signs that often remain are an unclear speech, drooping eyelids and mild weakness.
Intelligence varies and often is below average. Therefore, several children will need educational support or special education.
Children with PREPLdeficiency also often notice a dry mouth. There are also other hormonal abnormalities.
Many children with PREPLdeficiency have subtle facial signs (“bitemporal narrowing” and “high palate”).
PREPL