Coffin-Siris syndrome
Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0019054
congenital limb malformation
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0005172
skeletal system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
CSS
exact
Coffin-Siris syndrome
exact
intellectual disability with absent fifth fingernail and terminal phalanx
related
SPAC1250.01 SPAC23H3.10 SPCC16A11.14 SPBP23A10.05 SPAC23G3.10c SPAC17G6.10 SPAC2F7.08c SPBC30B4.04c SPCC1620.14c