distal monosomy 1q
1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0022756
chromosome 1q deletion
is_a
distal deletion 1q
exact
distal monosomy type 1q
exact
monosomy 1qter
exact
telomeric deletion 1q
exact