Feingold | 164280 | 2p23-p24 | N-MYC | Microcephaly, | Microcephaly, | Vertebral anomalies; | van Bokhoven et al,3 |
| | | | gastro-intestinal atresias, | learning | limb malformations are | Celli et al22 |
| | | | cardiac malformations, | difficulties, | not of VACTERL type | |
| | | | renal malformations | facial | | |
| | | | | dysmorphism | | |
CHARGE | 214800 | 8q12 | CHD7 | Coloboma, heart defect, | Coloboma, | Anal atresia, limb. | Vissers et al4 |
| | | | atresia choanae, retarded | ear and | anomalies | |
| | | | growth, genital anomaly, | genital | | |
| | | | ear anomaly | anomalies | | |
Fanconi | 607139 | 16q24.3 | FANCA | Susceptibility to cancer, | Susceptibility | None | Tischkowitz and |
300515 | Xp22.31 | FANCB (FAAP95) | short stature, congenital | to cancer, | Hodgson,36 |
227645 | 9q22.3 | FANCC | malformations | café au lait | Meetei et al,37 |
605724 | 13q12.3 | FANCD1 (BRCA2) | | patches, | Levran et al62 |
227646 | 3p25.3 | FANCD2 | | microcephaly, | |
600901 | 6p21-22 | FANCE | | growth | |
603467 | 11p15 | FANCF | | restriction | |
602956 | 9p13 | FANCG | | | |
605882 | 17q22 | FANCJ (BRIP1) | | | |
22q11 | 188400 | 22q11 | TBX1 | Cleft palate, heart | Cleft palate, | Vertebral anomalies, | Ryan et al63 |
deletion | | | | defect, thymic | hypocalcaemia, | anal atresia, limb | |
syndrome | | | | abnormality, facial | thymic | malformations | |
| | | | dysmorphism, | abnormality, | | |
| | | | hypocalcaemia | facial | | |
| | | | | dysmorphism | | |
Townes- | 107480 | 16q21.1 | SALL1 | External ear anomalies, | External ear | OA/TOF, cardiac | Powell and |
Brocks | | | | preaxial polydactyly, | anomalies, | malformations, | Michaelis64 |
| | | | triphalangeal thumbs, | hearing loss | vertebral | |
| | | | imperforate anus, renal | | anomalies | |
| | | | malformations | | | |
Pallister- | 146510 | 7p14.1 | GLI3 | Hypothalamic | Hypothalamic | OA/TOF, vertebral | Johnston et al65 |
Hall | | | | hamartoma, | hamartoma, | anomalies | |
| | | | polydactyly, cardiac | craniofacial | | |
| | | | and renal defects | dysmorphism | | |