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X-linked intellectual disability, Stoll type
ORPHA:85326 · Malformation syndrome · Disorder
HPO 表現型(共 12 項)
Frequent (79-30%)(12)
- Anteverted naresHP:0000463
- Broad nasal tipHP:0000455
- Clinodactyly of the 5th fingerHP:0004209
- Frontal bossingHP:0002007
- HypertelorismHP:0000316
- Hypoplastic nasal bridgeHP:0005281
- Intellectual disabilityHP:0001249
- Large foreheadHP:0002003
- Long philtrumHP:0000343
- Malar flatteningHP:0000272
- Short statureHP:0004322
- Widow's peakHP:0000349