Microcephaly (small head ) in some cases can be detected during pre-natal ultrasound check-ups, and most consistently after birth.
Endocrine issues include short stature that in some cases were accompanied by documented growth hormone deficiency; abnormal blood glucose regulations (low blood glucose at birth, high blood glucose after eating, diabetes), under developed testes and penis, low thyroid hormone level.
Mental disability ranges from mild learning difficulties or delayed speech development to severe and global developmental delay.
Epileptic seizures can be well controlled on one medication or severe and not controlled despite multiple medications.
Obesitymay be relative to short stature, with reported BMI measurements in the 70-97th centile for age.
Muscle and motor involvements range from mildly abnormal tones, mildly delayed achievement of walking by self to spastic quadriparesis and severe motor developmental delay.
Gastroesophageal reflux disease, abnormal pancreatic enzyme levels, and recurrent infections (e.g., upper respiratory) have been reported in some cases.
EIF2S3