Microcephaly is the most consistently described finding and in some cases was detected in utero. Post-natal occipitofrontal circumference measurements range from 1 to more than 8 standard deviations below the average references for age.
Endocrinologic issues include short stature (post-natal length/height measurements range from 1 to more than 8 SD below the average references for age) that in some cases were accompanied by documented growth hormone deficiency; glycemic dysregulations (neonatal hypoglycemia, post-prandial hyperglycemia, hyperinsulinemic hypoglycemia), hypogonadism and hypogenitalism (cryptorchidism, micropenis), hypothyroidism, partial or panhypopituitarism.
Mental disability ranges from mild learning difficulties or delayed speech development to severe and global developmental delay.
Epileptic seizures range from hypoglycemia-related to intractable, treatment refractory seizures.
Obesity may be relatively to short stature with reported BMI measurements in the 70-97th centile for age.
Musculoskeletal involvements range from mildly abnormal tones, mildly delayed achievement of independent ambulation to spastic quadriparesis and severe hypotonia and motor developmental delay.
Brain imaging descriptions include thin corpus callosum, white matter atrophy, abnormal myelination, and small anterior pituitary.
Gastroesophageal reflux disease, abnormal pancreatic enzyme levels, and recurrent infections (e.g., upper respiratory) have been reported in some cases.
EIF2S3