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

Townes-Brocks syndrome (IBS, OMIM #107480) is a rare autosomal-dominant malformation
syndrome with a combination of anal, renal, limb and ear anomalies1. Cytogenetic …

Okihiro syndrome refers to the association of forearm malformations with Duane syndrome
of eye retraction. Based on the reported literature experience, clinical diagnosis of the …

Oculo-auriculo-vertebral spectrum (OMIM164210) is a phenotypically and probably also a
genetically heterogeneous disorder, characterized by anomalies of the ear (mostly microtia), …

Objective Aicardi‐Goutières syndrome (AGS) is an early‐onset encephalopathy resembling
congenital viral infection that is characterized by basal ganglia calcifications, loss of white …

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising
craniofacial malformations, microcephaly, developmental delay, and a recognizable …

X-linked intellectual disability (XLID) is a genetically heterogeneous disorder with more than
100 genes known to date. Most genes are responsible for a small proportion of patients only…

Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein
kindlin‐1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an …

The region-specific homeotic genespalt(sal) ofDrosophilaspecifies head and tail as opposed
to trunk segments. During later stages of ontogenesis,salis also expressed and required in …

Background Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1
have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as …