Kabuki syndrome and other mental retardation syndromes

Kabuki syndrome, dominant

Coffin-Siris syndrome, dominant

Nicolaides-Baraitser syndrome

Lesch-Nyhan syndrome

Cornelia-de-Lange syndrome, dominant

Contact

Prof. Dr. Christian Netzer
Telephone +49 221 478-89586
Email christian.netzer@uk-koeln.de

Access the request form here.

Gene	OMIM	Method
KMT2D (MLL2), KDM6A	602113 300128	Sequencing MLPA

Gene	OMIM	Method
SMARCA2	600014	Sequencing

Gene	OMIM	Method
HPRT1	308000	Sequencing

Gene	OMIM	Method
NIPBL1 NIPBL2	608667	MLPA