Conditions / Genetic

chromosome 19q13.11 deletion syndrome

info ยท Genetic

A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech,

A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties.

Signs and symptoms

  • Sparse eyebrow
  • Intellectual disability
  • Microcephaly
  • Global developmental delay
  • Clinodactyly of the 5th finger
  • Hypospadias
  • Sparse hair
  • Aplasia cutis congenita of scalp
  • Feeding difficulties in infancy
  • Intrauterine growth retardation

Also known as: 19q13.11 microdeletion syndrome; monosomy 19q13.11