The MED13L-related intellectual disability or MRFACD syndrome (Mental retardation and
distinctive facial features with or without cardiac defects; MIM# 616789) is one of the most …

Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in
patients with moderate to severe intellectual disability (ID) and distinct facial features, with or …

MED13L haploinsufficiency has recently been described as responsible for syndromic
intellectual disability. We planned a search for causative gene variants in seven subjects …

MED13L haploinsufficiency syndrome is a clinical condition manifesting intellectual
disability and developmental delay in association with various complications including …

Introduction MED1 3L-related intellectual disability is characterized by moderate intellectual
disability (ID), speech impairment, and dysmorphic facial features. We present 8 patients …

Trio exome sequencing was performed on a female fetus with an increased nuchal
translucency, along with nasal bone hypoplasia, suspected cleft palate and abnormal …

Background Genetic variants involving the MED13L gene can lead to an autosomal
dominant syndrome characterised by intellectual disability/developmental delay and facial …

Background MED13L-related intellectual disability is a new syndrome that is characterized
by intellectual disability (ID), motor developmental delay, speech impairment, hypotonia and …

Intellectual disability (ID) is a heterogeneous condition arising from a variety of
environmental and genetic factors. Among these causes are defects in transcriptional …

Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are
extremely rare, and robust discovery of these requires both large-scale DNA sequencing …