distal monosomy 1q
MONDO:0018205Mondo
Findings
No curated finding names distal monosomy 1q yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018205), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Prominent foreheadHPOHP:0011220
- Very frequent (80% to 99% of cases)
- Round faceHPOHP:0000311
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
Show the remaining 3
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Smooth philtrumHPOHP:0000319
- Very frequent (80% to 99% of cases)
- Thin vermilion borderHPOHP:0000233
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
4 names
Resolves to: distal monosomy 1q
- Also called
- distal deletion 1qdistal monosomy type 1qmonosomy 1qtertelomeric deletion 1q