Abstract N-methyl-D-aspartate (NMDA) receptors mediate excitatory neurotransmission in
the mammalian brain. Two glycine-binding NR1 subunits and two glutamate-binding NR2 …

Background Submicroscopic deletions in 14q12 spanning FOXG1 or intragenic mutations
have been reported in patients with a developmental disorder described as a congenital …

Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial
dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails …

Background Heterozygous mutations in the CASK gene in Xp11. 4 have been shown to be
associated with a distinct brain malformation phenotype in females, including …

The overall understanding of the molecular etiologies of intellectual disability (ID) and
developmental delay (DD) is increasing as next-generation sequencing technologies …

Abstract Background Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a
group of phenotypically overlapping recessive syndromes with intellectual disability, for …

From a GeneMatcher-enabled international collaboration, we identified ten individuals
affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying …

De novo variants are a leading cause of neurodevelopmental disorders (NDDs), but
because every monogenic NDD is different and usually extremely rare, it remains a major …

Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with
gingival enlargement, intellectual disability (ID), hypertrichosis, and hypoplasia or aplasia of …

IFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis, atrichia,
and photophobia. Previous research found that mutations in MBTPS2, encoding site-2 …