retinitis pigmentosa Y-linked

A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome.

Y-linked monogenic disease

A monogenic disease that has_material_basis_in mutations on the Y chromosome.

Y-linked deafness

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

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.

second-degree atrioventricular block

An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node.

glycine encephalopathy 1

A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24.

third-degree atrioventricular block

An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles.

chromosome 16p12.1 deletion syndrome

A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects.

Cri-Du-Chat syndrome

A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat.