- 46,XX sex reversal 2 [DOID:0111763]
A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24.
- chromosome 16p12.1 deletion syndrome [DOID:0060399]
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.
- autosomal dominant nonsyndromic deafness 51 [DOID:0110577]
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.
- chromosome 16p11.2 deletion syndrome, 220-kb [DOID:0060398]
A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene.
- hypotonia-cystinuria syndrome [DOID:0060858]
A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.