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Ring chromosome 10 syndrome
ORPHA:1438 · Malformation syndrome · Disorder
HPO 表現型（共 24 項）
Very frequent (99-80%)(24)
- Abnormal antihelix morphologyHP:0009738
- Aganglionic megacolonHP:0002251
- CachexiaHP:0004326
- Downslanted palpebral fissuresHP:0000494
- Frontal bossingHP:0002007
- HypertelorismHP:0000316
- HypocalcemiaHP:0002901
- HypotoniaHP:0001252
- Intellectual disabilityHP:0001249
- Intrauterine growth retardationHP:0001511
- Large earlobeHP:0009748
- Long philtrumHP:0000343
- Low-set earsHP:0000369
- MicrognathiaHP:0000347
- MicrophthalmiaHP:0000568
- Pectus excavatumHP:0000767
- Renal hypoplasia/aplasiaHP:0008678
- Sandal gapHP:0001852
- SeizureHP:0001250
- Short neckHP:0000470
- Tapered fingerHP:0001182
- Thin vermilion borderHP:0000233
- Wide intermamillary distanceHP:0006610
- Wide nasal bridgeHP:0000431