retinitis pigmentosa Y-linked

A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome.

Y-linked deafness

A nonsyndromic deafness characterized by a Y-lnked inheritance mode.

Y-linked monogenic disease

A monogenic disease that has_material_basis_in mutations on the Y chromosome.

Y-linked deafness 1

A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life.

Y-linked deafness 2

A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2.

DNA ligase IV deficiency

A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.