Kabuki syndrome and other mental retardation syndromes

Kabuki syndrome, dominant
Gene OMIM Method
KMT2D (MLL2),

KDM6A

602113

300128

Sequencing

MLPA

Coffin-Siris syndrome, dominant
Gene OMIM Method
ARID1B

ARID1A

SMARCA2

SMARCA4

SMARCB1

SMARCE1

PHF6

614556

603024

600014

603254

601607

601607

300414

Sequencing

MLPA (ARID1B)

PHF6 in female patients only

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

Contact

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

Access the request form here.

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