chromosome 6pter-p24 deletion syndrome
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0011119
iridogoniodysgenesis
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0016888
partial deletion of the short arm of chromosome 6
is_a
6p subtelomeric deletion syndrome
exact
6p25 microdeletion syndrome
exact
chromosome 6pter-p24 deletion syndrome
exact
chromosome 6pter-p24 deletion syndrome, isolated cases
exact
distal deletion 6p
exact
distal monosomy type 6p
exact
monosomy 6p25
exact