Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene
Henri Margot,
Adrien Pizano,
Anouck Amestoy
et al.
Abstract:Marfanoid habitus and intellectual disability (MHID) co‐occur in multiple neurodevelopmental disorders (NDD). Among those, Lujan‐Fryns, an X‐linked genetic disorder associated with variants in MED12 was the first such syndrome identified. Accurate molecular diagnosis for these MHID syndromes remains a challenge due to significant clinical and genetic heterogeneity. We present a case report of a 20‐year‐old male patient with MHID and severe social anxiety. A comprehensive clinical evaluation, including morphoty… Show more
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