Smith-Magenis syndrome
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
MONDO:0022754
chromosome 17p deletion
excluded_subClassOf
MONDO:0000508
syndromic intellectual disability
is_a
MONDO:0000761
syndrome caused by partial chromosomal deletion
is_a
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
17p11.2 microdeletion syndrome
exact
SMITH-Magenis syndrome
exact
SMS
exact
Smith Magenis Syndrome
exact
Smith-Magenis syndrome
exact
Smith-Magenis syndrome, Isolated cases
exact
chromosome 17P11.2 deletion syndrome
exact
chromosome 17p11.2 deletion syndrome
exact