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Distal deletion 13q syndrome
ORPHA:1590 · Malformation syndrome · Disorder
HPO 表現型（共 22 項）
Occasional (29-5%)(22)
- Abnormal cardiac septum morphologyHP:0001671
- Abnormal metacarpal morphologyHP:0005916
- Abnormal vertebral body morphologyHP:0003312
- Abnormality of the handHP:0001155
- Ambiguous genitaliaHP:0000062
- Anal atresiaHP:0002023
- AnencephalyHP:0002323
- Aplasia/Hypoplasia affecting the eyeHP:0008056
- Aplasia/Hypoplasia of the corpus callosumHP:0007370
- Aplasia/Hypoplasia of the thumbHP:0009601
- Cognitive impairmentHP:0100543
- EncephaloceleHP:0002084
- HoloprosencephalyHP:0001360
- HypertelorismHP:0000316
- HypertoniaHP:0001276
- Iris colobomaHP:0000612
- MicrocephalyHP:0000252
- Optic atrophyHP:0000648
- Primary adrenal insufficiencyHP:0008207
- Renal hypoplasia/aplasiaHP:0008678
- Short statureHP:0004322
- Urogenital fistulaHP:0100589