Dehydrated hereditary stomatocytosis (DHSt) is an autosomal dominant congenital hemolytic
anemia with moderate splenomegaly and often compensated hemolysis. Affected red cells …

Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert
syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, …

Lamin B1 plays an important role in the nuclear envelope stability, the regulation of gene
expression, and neural development. Duplication of LMNB1, or missense mutations increasing …

Corpus callosum malformations are associated with a broad range of neurodevelopmental
diseases. We report that de novo mutations in MAST1 cause mega-corpus-callosum …

De novo DDX3X variants account for 1–3% of syndromic intellectual disability (ID) in females
and have been occasionally reported in males. Furthermore, somatic DDX3X variants …

The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the
transcriptional super elongation complex that regulates expression of genes involved in …

Rubinstein–Taybi syndrome (RSTS) is an autosomal-dominant neurodevelopmental disease
affecting 1:125,000 newborns characterized by intellectual disability, growth retardation, …

SLITRK2 is a single-pass transmembrane protein expressed at postsynaptic neurons that
regulates neurite outgrowth and excitatory synapse maintenance. In the present study, we …

We report an 8-year-old boy with a complex cerebral malformation, intellectual disability,
and complex partial seizures. Whole-exome sequencing revealed a yet unreported de novo …

Autosomal recessive congenital ichthyoses (ARCI) are rare genodermatosis disorders
characterized by phenotypic and genetic heterogeneity. At least fourteen genes so far have been …