Secretory piece deficiency- MedGen UID:
- 140769
- •Concept ID:
- C0398709
- •
- Disease or Syndrome
Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.
Deletion of long arm of chromosome 18- MedGen UID:
- 96605
- •Concept ID:
- C0432443
- •
- Disease or Syndrome
Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.