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Distal deletion 17q syndrome
ORPHA:1597 · Malformation syndrome · Disorder
HPO 表現型（共 31 項）
Very frequent (99-80%)(31)
- Abnormal cardiac septum morphologyHP:0001671
- Abnormal dermatoglyphicsHP:0007477
- Abnormal hip bone morphologyHP:0003272
- Abnormal metacarpal morphologyHP:0005916
- Abnormal thumb morphologyHP:0001172
- Abnormal vertebral body morphologyHP:0003312
- Abnormality of the cardiovascular systemHP:0001626
- Abnormality of the philtrumHP:0000288
- Aplasia/Hypoplasia of the thumbHP:0009601
- Aplasia/Hypoplasia of the uvulaHP:0010293
- Asymmetric growthHP:0100555
- Bilateral single transverse palmar creasesHP:0007598
- Deviation of fingerHP:0004097
- HepatomegalyHP:0002240
- HypertelorismHP:0000316
- Melanocytic nevusHP:0000995
- MicrocephalyHP:0000252
- MicromeliaHP:0002983
- MicrotiaHP:0008551
- Narrow mouthHP:0000160
- Optic atrophyHP:0000648
- Patent ductus arteriosusHP:0001643
- Posteriorly rotated earsHP:0000358
- Premature birthHP:0001622
- Prominent metopic ridgeHP:0005487
- Respiratory insufficiencyHP:0002093
- Short statureHP:0004322
- Short thoraxHP:0010306
- Small handHP:0200055
- Upper limb asymmetryHP:0100560
- Upslanted palpebral fissureHP:0000582