先天性多発奇形症候群
OMIM
| SMITH-LEMLI-OPITZ SYNDROME; SLOS | 11q12-q13 | http://www.ncbi.nlm.nih.gov/omim/270400 |
| SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY B, MEMBER 1; SMARCB1 | 22q11 | http://www.ncbi.nlm.nih.gov/omim/601607 |
| FRYNS SYNDROME; FRNS | http://www.ncbi.nlm.nih.gov/omim/229850 | |
| PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A | http://www.ncbi.nlm.nih.gov/omim/614887 | |
| PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A | http://www.ncbi.nlm.nih.gov/omim/614886 | |
| PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A | http://www.ncbi.nlm.nih.gov/omim/614883 | |
| PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A | http://www.ncbi.nlm.nih.gov/omim/614882 | |
| PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A | http://www.ncbi.nlm.nih.gov/omim/614876 | |
| PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A | http://www.ncbi.nlm.nih.gov/omim/614872 | |
| PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A | http://www.ncbi.nlm.nih.gov/omim/614870 | |
| PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A | http://www.ncbi.nlm.nih.gov/omim/614866 | |
| PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A | http://www.ncbi.nlm.nih.gov/omim/614862 | |
| PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A | http://www.ncbi.nlm.nih.gov/omim/614859 | |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 12; MRD12 | http://www.ncbi.nlm.nih.gov/omim/614562 | |
| ADAMS-OLIVER SYNDROME 2; AOS2 | http://www.ncbi.nlm.nih.gov/omim/614219 | |
| RUBINSTEIN-TAYBI SYNDROME 2; RSTS2 | 22q13 | http://www.ncbi.nlm.nih.gov/omim/613684 |
| GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY DEATH; GDFD | 16q12.2 | http://www.ncbi.nlm.nih.gov/omim/612938 |
| STEVENSON-CAREY SYNDROME | http://www.ncbi.nlm.nih.gov/omim/611961 | |
| SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES | http://www.ncbi.nlm.nih.gov/omim/602471 | |
| PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY | http://www.ncbi.nlm.nih.gov/omim/602342 | |
| MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS | 2q33-q34 | http://www.ncbi.nlm.nih.gov/omim/265000 |
| FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY | http://www.ncbi.nlm.nih.gov/omim/228250 | |
| TEMTAMY SYNDROME; TEMTYS | http://www.ncbi.nlm.nih.gov/omim/218340 | |
| COSTELLO SYNDROME | 11p15.5 | http://www.ncbi.nlm.nih.gov/omim/218040 |
| PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A | http://www.ncbi.nlm.nih.gov/omim/214110 | |
| RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 | 16p13.3 | http://www.ncbi.nlm.nih.gov/omim/180849 |
| FEMORAL-FACIAL SYNDROME; FFS | http://www.ncbi.nlm.nih.gov/omim/134780 | |
| SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 5A1; SLCO5A1 | http://www.ncbi.nlm.nih.gov/omim/613543 | |
| SULFATASE 1; SULF1 | 8q13.3 | http://www.ncbi.nlm.nih.gov/omim/610012 |
| MESOMELIA-SYNOSTOSES SYNDROME | 8q13 | http://www.ncbi.nlm.nih.gov/omim/600383 |
| OPITZ-KAVEGGIA SYNDROME; OKS | Xq13 | http://www.ncbi.nlm.nih.gov/omim/305450 |
参考
- 1.
- <click2in>http://www.ncbi.nlm.nih.gov/pubmed/10528252</click2in>