Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global
developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788) …

Background Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID)
and specific language impairment (SLI), with or without autistic features (MIM: 613670) …

Congenital heart defects (CHD) are the most common congenital anomalies in liveborn
children. In contrast to syndromic CHD (SCHD), the genetic basis of isolated CHD (ICHD) is …

Background: The introduction of next-generation sequencing techniques has substantially
increased the identification of new genetic variants and hence the necessity of accurate …

Purpose Congenital contractural arachnodactyly (CCA) is an autosomal dominant
connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears …

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by
mandibular hypoplasia and an auricular defect at the junction between the lobe and helix …

VPS45 mutations cause severe congenital neutropenia (SCN). We report on a girl with SCN
and neurological impairment harboring a homozygous p. E238K mutation in VPS45 …

Copy number variations (CNVs) can modulate phenotypes by affecting protein-coding
sequences directly or through interference of gene expression. Recent studies in cancer and …

Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short
stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities …

Abstract Tetralogy of Fallot (ToF) can be associated with a wide range of extracardiac
anomalies, with an underlying etiology identified in approximately 10% of cases. Individuals …