Table 1.

Summary of the clinical phenotypes of cases I and II.

Case	Age at the last clinical evaluation	Prenatal phenotypes	Postnatal phenotypes
Case I	2 months	Fetal growth delay	Development delay, feeding difficulties, congenital laryngeal stridor, neonatal pneumonia, neonatal hypoglycemia, craniofacial anomalies, and cryptorchidism
Case II	9 years	Unremarkable	Feeding difficulties, congenital laryngeal stridor, neonatal pneumonia, neonatal hypoglycemia, intellectual disability, psychomotor development delay, speech delay, short stature, craniofacial anomalies, and cryptorchidism