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Atkin-Flaitz syndrome
ORPHA:1193 · Malformation syndrome · Disorder
HPO 表現型(共 16 項)
Very frequent (99-80%)(14)
- Abnormality of the dentitionHP:0000164
- Anteverted naresHP:0000463
- Broad foreheadHP:0000337
- Broad nasal tipHP:0000455
- Coarse facial featuresHP:0000280
- Everted lower lip vermilionHP:0000232
- Intellectual disabilityHP:0001249
- MacrocephalyHP:0000256
- MacroorchidismHP:0000053
- Maxillary lateral incisor microdontiaHP:0001593
- ObesityHP:0001513
- Prominent supraorbital ridgesHP:0000336
- Short statureHP:0004322
- Thick vermilion borderHP:0012471
Frequent (79-30%)(2)
- HypertelorismHP:0000316
- MacrotiaHP:0000400