intellectual disability
Here we show that a homozygous mutation affecting a highly conserved MFSD2A residue (p.Ser339Leu) is associated with a progressive microcephaly syndrome characterized by intellectual disability, spasticity and absent speech.
Here we show that a homozygous mutation affecting a highly conserved <span class="gene" id="26005865-2-69-75">MFSD2A</span> residue (p.Ser339Leu) is associated with a progressive microcephaly syndrome characterized by <span class="disease" id="26005865-2-170-193">intellectual disability</span>, spasticity and absent speech.