chromosome 5q12 deletion syndrome
Also known as: PDE4D haploinsufficiency syndrome, chromosome 5q12 deletion syndrome
Additional Disease Briefs
chromosome 5Q14.3 deletion syndrome, distal
Also known as: chromosome 5Q14.3 deletion syndrome, distal, heterotopia, periventricular, associated with chromosome 5Q deletion, periventricular nodular heterotopia 5
chromosome 6pter-p24 deletion syndrome
Also known as: 6p subtelomeric deletion syndrome, 6p25 microdeletion syndrome, chromosome 6pter-p24 deletion syndrome, chromosome 6pter-p24 deletion syndrome, isolated cases, distal deletion 6p, distal monosomy 6p, distal monosomy type 6p, monosomy 6p25
chromosome 6q11-q14 deletion syndrome
Also known as: chromosome 6Q13-q14 deletion syndrome, chromosome 6q11-q14 deletion syndrome, chromosome 6q11-q14 deletion syndrome, isolated cases
chromosome 6q24-q25 deletion syndrome
Also known as: 6q25 microdeletion syndrome, Del(6)(q25), chromosome 6q24-q25 deletion syndrome, chromosome 6q25 microdeletion syndrome, chromosome 6q25-q25 deletion syndrome, del(6q25), deletion 6q25, monosomy 6q25
chromosome 8-derived supernumerary ring/marker
Also known as: R8, Ring 8, Ring chromosome 8 syndrome, chromosome 8 ring, r(8) syndrome, ring chromosome 8, rose cluster 8, supernumerary ring/marker 8
chromosome 8Q12.1-q21.2 deletion syndrome
Also known as: Branchio-Oto-renal Duane hydrocephalus contiguous gene syndrome, bor-Duane hydrocephalus contiguous Gene syndrome, chromosome 8Q12.1-q21.2 deletion syndrome
chromosome 8q21.11 deletion syndrome
Also known as: 8q21.11 microdeletion syndrome, Del(8)(q21.11), chromosome 8q21.11 deletion syndrome, chromosome 8q21.11 deletion syndrome, isolated cases, deletion 8q21.11, monosomy 8q21.11
chromosome 9p deletion syndrome
Also known as: 9p deletion, 9p deletion syndrome, 9p monosomy, 9p syndrome, 9p- syndrome, Alfi syndrome, chromosome 9p deletion, deletion 9p, monosomy 9p, monosomy 9p syndrome, monosomy type 9p, partial deletion of chromosome 9p, partial deletion of the short arm of chromosome 9, partial deletion of the short arm of chromosome type 9, partial monosomy 9p, partial monosomy of chromosome 9p, partial monosomy of the short arm of chromosome 9
chromosome Xp11.22 duplication syndrome
Also known as: Xp11.22 microduplication syndrome, Xp11.22-linked intellectual disability, chromosome Xp11.22 duplication syndrome, intellectual disability, X-linked 17, intellectual disability, X-linked 31, mental retardation, X-linked 17, mental retardation, X-linked 31