Cornelia de Lange syndrome
A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015216
obsolete syndromic diaphragmatic or abdominal wall malformation (obsolete MONDO:0015216)
excluded_subClassOf
MONDO:0018234
dysostosis
excluded_subClassOf
MONDO:0020169
obsolete rare disorder with ptosis (obsolete MONDO:0020169)
excluded_subClassOf
MONDO:0020253
obsolete syndrome with a symptomatic strabismus (obsolete MONDO:0020253)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0019054
congenital limb malformation
is_a
Brachmann-de Lange syndrome
exact
CDLS
related
Cornelia de Lange syndrome
exact
SPCC338.17c SPAC31A2.05c SPBC29A10.04 SPAC631.02 SPAC10F6.09c