Distal monosomy 1q

MONDO:0018205

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.

Also known as: distal deletion 1q, distal monosomy type 1q, monosomy 1qter, telomeric deletion 1q

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