| PROTEUS SYNDROME | AKT1 |
| ANDROGEN INSENSITIVITY SYNDROME; AIS | AR |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 14; MRD14 | ARID1A |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 12; MRD12 | ARID1B |
| BOHRING-OPITZ SYNDROME; BOPS | ASXL1 |
| ATAXIA-TELANGIECTASIA; AT | ATM |
| ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX | ATRX |
| MICROPHTHALMIA, SYNDROMIC 2; MCOPS2 | BCOR |
| BLOOM SYNDROME; BLM | BLM |
| CARDIOFACIOCUTANEOUS SYNDROME | BRAF |
| FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1 | BRCA2 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA | BRIP1 |
| NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC | CBL |
| BARE LYMPHOCYTE SYNDROME, TYPE II | CIITA |
| OSTEOGENESIS IMPERFECTA, TYPE I | COL1A1 |
| RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 | CREBBP |
| SUPRAVALVULAR AORTIC STENOSIS; SVAS | ELN |
| RUBINSTEIN-TAYBI SYNDROME 2; RSTS2 | EP300 |
| POTOCKI-SHAFFER SYNDROME | EXT2 |
| WEAVER SYNDROME 2; WVS2 | EZH2 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA | FANCA |
| FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC | FANCC |
| FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 | FANCD2 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE | FANCE |
| FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | FANCF |
| FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG | FANCG |
| PFEIFFER SYNDROME | FGFR1 |
| HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 | FGFR1 |
| OSTEOGLOPHONIC DYSPLASIA; OGD | FGFR1 |
| TRIGONOCEPHALY 1; TRIGNO1 | FGFR1 |
| APERT SYNDROME | FGFR2 |
| PFEIFFER SYNDROME | FGFR2 |
| JACKSON-WEISS SYNDROME; JWS | FGFR2 |
| CROUZON SYNDROME | FGFR2 |
| BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS | FGFR2 |
| LACRIMOAURICULODENTODIGITAL SYNDROME; LADD | FGFR2 |
| ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; | FGFR2 |
| ACHONDROPLASIA; ACH | FGFR3 |
| THANATOPHORIC DYSPLASIA, TYPE I; TD1 | FGFR3 |
| MUENKE SYNDROME; MNKES | FGFR3 |
| CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME | FGFR3 |
| CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN | FGFR3 |
| BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES | FOXL2 |
| MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES | FOXP1 |
| MCCUNE-ALBRIGHT SYNDROME; MAS | GNAS |
| SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 | GPC3 |
| RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA; RUSAT | HOXA11 |
| HAND-FOOT-UTERUS SYNDROME | HOXA13 |
| PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS | HOXA13 |
| BRACHYDACTYLY, TYPE D; BDD | HOXD13 |
| BRACHYDACTYLY, TYPE E1; BDE1 | HOXD13 |
| SYNPOLYDACTYLY 1; SPD1 | HOXD13 |
| SYNDACTYLY, TYPE V | HOXD13 |
| VATER ASSOCIATION | HOXD13 |
| BRACHYDACTYLY-SYNDACTYLY SYNDROME | HOXD13 |
| COSTELLO SYNDROME | HRAS |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ | KDM5C |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ | KDM5C |
| KABUKI SYNDROME 2; KABUK2 | KDM6A |
| CARDIOFACIOCUTANEOUS SYNDROME | KRAS |
| NOONAN SYNDROME 3; NS3 | KRAS |
| STUVE-WIEDEMANN SYNDROME | LIFR |
| CARDIOFACIOCUTANEOUS SYNDROME | MAP2K1 |
| 46,XY SEX REVERSAL 6; SRXY6 | MAP3K1 |
| OPITZ-KAVEGGIA SYNDROME; OKS | MED12 |
| LUJAN-FRYNS SYNDROME | MED12 |
| HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL | MLL |
| KABUKI SYNDROME 1; KABUK1 | MLL2 |
| FEINGOLD SYNDROME 1; FGLDS1 | MYCN |
| AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4 | MYH11 |
| NEUROFIBROMATOSIS, TYPE I; NF1 | NF1 |
| WATSON SYNDROME | NF1 |
| NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS | NF1 |
| SECKEL SYNDROME 7; SCKL7 | NIN |
| AORTIC VALVE DISEASE 1; AOVD1 | NOTCH1 |
| HAJDU-CHENEY SYNDROME; HJCYS | NOTCH2 |
| ALAGILLE SYNDROME 2; ALGS2 | NOTCH2 |
| HAJDU-CHENEY SYNDROME; HJCYS | NOTCH2 |
| ALAGILLE SYNDROME 2; ALGS2 | NOTCH2 |
| NOONAN SYNDROME 6; NS6 | NRAS |
| SOTOS SYNDROME 1; SOTOS1 | NSD1 |
| BECKWITH-WIEDEMANN SYNDROME; BWS | NSD1 |
| WEAVER SYNDROME 1; WVS1 | NSD1 |
| INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA | NTRK1 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA | PALB2 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN | PALB2 |
| CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS | PAX3 |
| WAARDENBURG SYNDROME, TYPE 3; WS3 | PAX3 |
| WAARDENBURG SYNDROME, TYPE 1; WS1 | PAX3 |
| CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS | PHOX2B |
| CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL | PIK3CA |
| BASAL CELL NEVUS SYNDROME; BCNS | PTCH1 |
| BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS | PTEN |
| VACTERL ASSOCIATION WITH HYDROCEPHALUS | PTEN |
| LEOPARD SYNDROME 1 | PTPN11 |
| NOONAN SYNDROME 1; NS1 | PTPN11 |
| NOONAN SYNDROME 5; NS5 | RAF1 |
| LEOPARD SYNDROME 2 | RAF1 |
| HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 | RET |
| CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS | RET |
| PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY | RUNX1 |
| SHWACHMAN-DIAMOND SYNDROME; SDS | SBDS |
| PARAGANGLIOMAS 4; PGL4 | SDHB |
| SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME | SETBP1 |
| PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 | SMAD4 |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 16; MRD16 | SMARCA4 |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 15; MRD15 | SMARCB1 |
| CAMPOMELIC DYSPLASIA | SOX9 |
| 46,XX SEX REVERSAL 2; SRXX2 | SOX9 |
| NEMALINE MYOPATHY 1; NEM1 | TPM3 |
| ACHONDROGENESIS, TYPE IA; ACG1A | TRIP11 |
| TUBEROUS SCLEROSIS 1; TSC1 | TSC1 |
| NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX | WAS |
| WISKOTT-ALDRICH SYNDROME; WAS | WAS |
| WERNER SYNDROME; WRN | WRN |
| FRASIER SYNDROME | WT1 |
| DENYS-DRASH SYNDROME; DDS | WT1 |
Please add your favorite if you see that I have missed something.
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