Cornelia de Lange syndrome 2
An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.
MONDO:0016033
Cornelia de Lange syndrome
is_a
MONDO:0019713
non-syndromic limb reduction defect
is_a
CDLS2
related
Cornelia De Lange syndrome type 2
exact
Cornelia de Lange syndrome 2
exact
Cornelia de Lange syndrome 2, X-linked dominant
exact
Cornelia de Lange syndrome caused by mutation in SMC1A
exact
SMC1A Cornelia de Lange syndrome
exact
X-linked Cornelia De Lange syndrome
exact
SPBC29A10.04