Background Giant axonal neuropathy (GAN) is a progressive childhood hereditary
polyneuropathy that affects both the peripheral and central nervous systems. Disease …

Abstract Background Aminoacylase-1 deficiency (ACY1D) is an autosomal recessive rare
inborn error of metabolism, which is caused by disease-causing variants in the ACY1. This …

Homozygous or compound heterozygous mutations in the NAD (P) HX epimerase (NAXE)
gene, cause early-onset progressive encephalopathy with brain edema and/or …

Microcephaly is a frequent feature of neurodevelopmental disorders (NDDs). Our study
presents the heterogeneous spectrum of genetic disorders in patients with microcephaly …

Background 3MC syndrome type 3 is an autosomal recessive disorder caused by mutations
in the COLEC10 gene besides other genes like COLEC11 and MASP1. This disorder is …

Autosomal recessive microcephaly is a rare clinical condition, which is characterized by
reduced brain size that can be associated with delayed intellectual ability, developmental …

Guanidinoacetate methyltransferase deficiency (GAMTD) is a treatable neurodevelopmental
disorder with normal or nonspecific imaging findings. Here, we reported a 14-month-old girl …

Congenital hydrocephalus (CH) is a severe birth defect, and genetics components is an
important etiology. Whole‐exome sequencing (WES) has been proven to be a feasible …

Key Clinical Message Congenital myasthenic syndromes‐5 (CMS5) is a rare autosomal
recessive heterogeneous disorder, caused by pathogenic variants in the COLQ that lead to …

This manuscript aimed to determine the underlying point mutations causing Duchenne
muscular dystrophy (DMD) in a heterogeneous group of Iranian patients, who are clinically …