craniolenticulosutural dysplasia
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
MONDO:0003847
hereditary disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
Boyadjiev-Jabs syndrome
exact
CLSD
related
craniolenticulosutural dysplasia
exact
SPCC31H12.07 SPBC776.04