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Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
ORPHA:314575 · Malformation syndrome · Disorder
HPO 表現型（共 14 項）
Frequent (79-30%)(14)
- Bilateral cryptorchidismHP:0008689
- BrachycephalyHP:0000248
- CraniosynostosisHP:0001363
- Depressed nasal bridgeHP:0005280
- Downslanted palpebral fissuresHP:0000494
- Floppy infantHP:0008947
- Frontal bossingHP:0002007
- High palateHP:0000218
- Low-set earsHP:0000369
- MacrotiaHP:0000400
- Pectus excavatumHP:0000767
- Pyloric stenosisHP:0002021
- Short statureHP:0004322
- Thin upper lip vermilionHP:0000219