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EEC syndrome
ORPHA:1896 · Malformation syndrome · Disorder
HPO 表現型（共 61 項）
Very frequent (99-80%)(17)
- Abnormal dental enamel morphologyHP:0000682
- Absent lacrimal punctumHP:0001092
- Carious teethHP:0000670
- Coarse hairHP:0002208
- Dry skinHP:0000958
- EctrodactylyHP:0100257
- HyperkeratosisHP:0000962
- Lacrimation abnormalityHP:0000632
- MicrodontiaHP:0000691
- Nail dystrophyHP:0008404
- Nail pitsHP:0001803
- Sparse eyebrowHP:0045075
- Split footHP:0001839
- Split handHP:0001171
- TaurodontiaHP:0000679
- Thick eyebrowHP:0000574
- Tooth agenesisHP:0009804
Frequent (79-30%)(18)
- Aplasia/Hypoplasia of the skinHP:0008065
- BlepharitisHP:0000498
- Cleft lipHP:0410030
- Corneal erosionHP:0200020
- DacryocystitisHP:0000620
- Duplication of hand bonesHP:0004275
- Ectodermal dysplasiaHP:0000968
- Generalized hypopigmentationHP:0007513
- HydronephrosisHP:0000126
- Inflammatory abnormality of the eyeHP:0100533
- KeratitisHP:0000491
- KeratoconjunctivitisHP:0001096
- OligodactylyHP:0012165
- Orofacial cleftHP:0000202
- PhotophobiaHP:0000613
- Renal hypoplasia/aplasiaHP:0008678
- Slow-growing hairHP:0002217
- Urethral atresiaHP:0000068
Occasional (29-5%)(26)
- Abnormal pinna morphologyHP:0000377
- Abnormality of the inner earHP:0000359
- Abnormality of the middle earHP:0000370
- Anterior hypopituitarismHP:0000830
- Aplasia/Hypoplasia of the breastsHP:0010311
- Aplasia/Hypoplasia of the nipplesHP:0006709
- Aplasia/Hypoplasia of the thumbHP:0009601
- Choanal atresiaHP:0000453
- Cleft palateHP:0000175
- Decreased response to growth hormone stimulation testHP:0000824
- EntropionHP:0000621
- Fine hairHP:0002213
- Finger syndactylyHP:0006101
- HypohidrosisHP:0000966
- Hypoplasia of the thymusHP:0000778
- HypospadiasHP:0000047
- Intellectual disabilityHP:0001249
- LymphomaHP:0002665
- NevusHP:0003764
- Proximal placement of thumbHP:0009623
- Sensorineural hearing impairmentHP:0000407
- Short statureHP:0004322
- Sparse hairHP:0008070
- Toe syndactylyHP:0001770
- Vesicoureteral refluxHP:0000076
- XerostomiaHP:0000217