Kabuki syndrome, dominant
Gene | OMIM | Method |
KMT2D (MLL2), KDM6A | 602113 300128 | Sequencing MLPA |
Coffin-Siris syndrome, dominant
Nicolaides-Baraitser syndrome
Gene | OMIM | Method |
SMARCA2 | 600014 | Sequencing |
Lesch-Nyhan syndrome
Gene | OMIM | Method |
HPRT1 | 308000 | Sequencing |
Cornelia-de-Lange syndrome, dominant
Gene | OMIM | Method |
NIPBL1 NIPBL2 | 608667 | MLPA |