Gene |
Chromosome |
Location |
Syndrome |
(der 11) | 22 | extra | Emanuel syndrome | |
(der 22) | 11 | extra | Emanuel syndrome | |
ALX1 | 12 | q21.31 | Frontonasal dysplasia | |
ALX3 | 1 | p13.3 | Frontonasal dysplasia | |
ANOS1 | 23 | p22.32 | Kallmann syndrome types 1 and 2 | |
B3GLCT | 13 | q12.3 | Peters plus syndrome | |
CEP120 | 5 | q23.2 | Short-rib thoracic dysplasia 13 | |
CHD7 | 8 | q12.2 | CHARGE syndrome | |
COLEC11 | 2 | p25.3 | Carnevale syndrome | |
CPCMR | 15 | q14 | Cleft palate cardiac defects and mental retardation | |
DHODH | 16 | q22 | Miller syndrome | |
EMG1 | 12 | p13.3 | Bowen-Conradi syndrome | |
ESCO2 | 8 | p21.1 | Roberts syndrome | |
FGD1 | 23 | p11.21 | Aarskog-Scott syndrome | |
FGF10 | 5 | p12-13 | Crouzon syndrome | |
FGFR1 | 8 | p11.22-23 | Kallmann syndrome types 1 and 2 | |
FGFR2 | 10 | q26 | Crouzon syndrome | |
FGFR3 | 4 | p16.3 | Crouzon syndrome | |
FRAS1 | 4 | q21.21 | Fraser syndrome | |
FREM2 | 13 | q13.3 | Fraser syndrome | |
PVRL1 | 11 | q23.3 | Non-syndromic orofacial cleft 7 | |
RPL11 | 1 | p35-36.1 | Diamond-Blackfan anemia | |
RPL35A | 3 | q29 | Diamond-Blackfan anemia | |
RPL5 | 1 | p22.1 | Diamond-Blackfan anemia | |
RPS10 | 6 | p21.31 | Diamond-Blackfan anemia | |
RPS17 | 15 | q21.3 | Diamond-Blackfan anemia | |
RPS19 | 19 | q13.2 | Diamond-Blackfan anemia | |
RPS24 | 10 | q22 | Diamond-Blackfan anemia | |
RPS26 | 12 | q13 | Diamond-Blackfan anemia | |
RPS7 | 2 | p25 | Diamond-Blackfan anemia | |
SCARF2 | 22 | q11.21 | Van den Ende-Gupta syndrome | |
SEMA3E | 7 | q21.11 | CHARGE syndrome | |
SHH | 7 | q37 | Nonsyndromic holoprosencephaly | |
SIX3 | 2 | p21 | Nonsyndromic holoprosencephaly | |
SMAD4 | 18 | q21.1 | Myhre syndrome | |
SMOC1 | 14 | q24.2 | Ophthalmo-acromelic syndrome | |
SMS | 23 | p22.1 | Snyder-Robinson syndrome | |
SPECC1L | 22 | q11.23 | Opitz G/BBB syndrome | |
SUMO1 | 2 | q33 | Non-syndromic orofacial cleft 10 | |
TFAP2A | 6 | p24 | Branchio-oculo-facial syndrome | |
TGIF1 | 18 | p11.3 | Nonsyndromic holoprosencephaly | |
TP63 | 3 | q28 | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | |
trisomy | 13 | all | Patau syndrome | |
TXNL4A | 18 | q23 | Burn-McKeown syndrome | |
unknown | 9 | unknown | Nager syndrome | |
VAX1 | 10 | q26.1 | Syndromic Microphthalmia | |
WDR34 | 9 | q34.11 | Short-rib thoracic dysplasia 13 | |
WDR60 | 7 | q36.3 | Short-rib thoracic dysplasia 13 | |
WHSC1 | 4 | p16.3 | Wolf-Hirschhorn syndrome | |
YAP1 | 11 | q13 | Yes associated protein 1 malformation | |
ZIC2 | 13 | q32 | Nonsyndromic holoprosencephaly | |