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Distal deletion 1q syndrome
ORPHA:36367 · Malformation syndrome · Disorder
HPO 表現型（共 15 項）
Very frequent (99-80%)(15)
- Aplasia/Hypoplasia of the corpus callosumHP:0007370
- Depressed nasal bridgeHP:0005280
- EpicanthusHP:0000286
- Global developmental delayHP:0001263
- HypertelorismHP:0000316
- Intellectual disabilityHP:0001249
- Low-set earsHP:0000369
- MicrocephalyHP:0000252
- MicrognathiaHP:0000347
- Prominent foreheadHP:0011220
- Round faceHP:0000311
- SeizureHP:0001250
- Short statureHP:0004322
- Smooth philtrumHP:0000319
- Thin vermilion borderHP:0000233