Achondroplasia |
FGFR3/4p16.3 |
No |
Alström Syndrome |
ALMS1/2p13.1 |
Yes |
Bardet Biedl Syndromes |
Multiple/Multiple |
Yes |
Beckwith–Wiedemann Syndrome |
CDKN1C, KCNQ1OT1/H19,/11p15, 11p14 |
Rarely |
Borjeson–Forssman–Lehmann Syndrome |
PHF6/Xq26.2 |
Yes |
Carpenter syndrome |
RAB23/6p11.2 |
Yes |
Congenital disorder of glycosylation 1a |
PMM2/16p13.2 |
Yes |
Cohen Syndrome |
COH1 (VPS13B)/8q22.2 |
Yes |
Cowden syndrome |
PTEN/10q23.31 |
Yes |
Fragile X |
FMR1/Xq27.3 |
Yes |
MEHMO Syndrome |
Xp22.13-p21.1 |
Yes |
Meningomyelocele |
Multiple/Multiple |
Variable |
MORM Syndrome |
INPP5E/9q34.3 |
Yes |
Prader Willi Syndrome |
SNRPN, NDN/15q11.2 |
Yes |
Pseudohypoparathyroidism 1a |
GNAS/20q13.32 |
Yes |
Simpson–Golabi–Behmel Syndrome |
GPC3/Xq26.2 |
Variable |
Smith–Magenis Syndrome |
RAI1/17p11.2 |
Yes |
Sotos Syndrome 1 |
NSD1/5q35.2-q35.3 |
Yes |
Sotos Syndrome 2 |
NFIX/19p13.2 |
Yes |
Turner Syndrome |
Multiple/X |
Variable |
Ulnar–mammary Schinzel Syndrome |
TBX3/12q24.21 |
Yes |
WAGR Syndrome with obesity |
BDNF/11p14.1 |
Yes |
Weaver syndrome |
EZH2/7q36 |
Yes |
Wilson–Turner Syndrome |
HDAC8/Xq13.1 |
Yes |