X-linked intellectual disability with marfanoid habitus
The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0100000
MED12-related intellectual disability syndrome
is_a
Lujan syndrome
exact
Lujan-Fryns syndrome
exact
Lujan-Fryns syndrome, X-linked recessive
exact
Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies
related
mental retardation, X-linked, with Marfanoid habitus
related
SPAC688.08