The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

Egyptian Journal of Medical Human Genetics

Table 1 Clinical findings of the proband and his family members

Children’s gender	Current age	HC at birth	Clinical features
Female	15 years	43 cm	Stuttering Dysarthria Seizure
Male	11 years	36 cm	Mild–moderate mental retardation Stuttering Dysarthria Seizure
Female	6 years	39.5 cm	Mild–moderate mental retardation Seizure Short neck
Male	4 days	33.1 cm	Cleft Palate Short neck Parenchymal atrophy of lateral/third ventricles (last ultrasound screening)