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Difference of sex development-intellectual disability syndrome
ORPHA:2983 · Disease · Disorder
HPO 表現型（共 23 項）
Very frequent (99-80%)(23)
- Abnormal hair patternHP:0010720
- Abnormality of the faceHP:0000271
- Deeply set eyeHP:0000490
- Downturned corners of mouthHP:0002714
- Genu valgumHP:0002857
- HypogonadismHP:0000135
- Hypoplasia of penisHP:0008736
- Intellectual disabilityHP:0001249
- KyphosisHP:0002808
- Low posterior hairlineHP:0002162
- MicrotiaHP:0008551
- Posteriorly rotated earsHP:0000358
- Reduced bone mineral densityHP:0004349
- Severe sensorineural hearing impairmentHP:0008625
- Short neckHP:0000470
- Short noseHP:0003196
- Short philtrumHP:0000322
- Short thoraxHP:0010306
- Small scrotumHP:0000046
- Spina bifida occultaHP:0003298
- SynophrysHP:0000664
- Thin vermilion borderHP:0000233
- Wide intermamillary distanceHP:0006610