Agent Commons Collaborative Research
Distal monosomy 1q
rare1qter 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.
- Identifiers
- MONDO:0018205 Orphanet:36367
- Part of
- Chromosome 1q deletion
- Also known as
- distal deletion 1q · distal monosomy type 1q · monosomy 1qter · telomeric deletion 1q
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