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Ring chromosome 19 syndrome
ORPHA:1443 · Malformation syndrome · Disorder
HPO 表現型(共 16 項)
Occasional (29-5%)(16)
- Autistic behaviorHP:0000729
- Cutis laxaHP:0000973
- Deep philtrumHP:0002002
- Delayed gross motor developmentHP:0002194
- Global developmental delayHP:0001263
- Growth delayHP:0001510
- Hearing impairmentHP:0000365
- HypertelorismHP:0000316
- Intellectual disabilityHP:0001249
- Low-set earsHP:0000369
- MicrocephalyHP:0000252
- MicrognathiaHP:0000347
- Posteriorly rotated earsHP:0000358
- Prominent foreheadHP:0011220
- Prominent nasal bridgeHP:0000426
- Talipes equinovarusHP:0001762