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Microcephalic primordial dwarfism, Dauber type
ORPHA:319675 · Malformation syndrome · Disorder
HPO 表現型（共 22 項）
Frequent (79-30%)(22)
- Abnormal carpal morphologyHP:0001191
- Bilateral breast hypoplasiaHP:0012814
- Clinodactyly of the 5th fingerHP:0004209
- Delayed skeletal maturationHP:0002750
- Global developmental delayHP:0001263
- Hip dysplasiaHP:0001385
- HypotelorismHP:0000601
- Limb undergrowthHP:0009826
- Lumbar scoliosisHP:0004626
- Madelung deformityHP:0003067
- MicrocephalyHP:0000252
- MicrotiaHP:0008551
- ObesityHP:0001513
- Primary amenorrheaHP:0000786
- Prominent noseHP:0000448
- SeizureHP:0001250
- Severe intellectual disabilityHP:0010864
- Severe intrauterine growth retardationHP:0008846
- Severe postnatal growth retardationHP:0008850
- Short middle phalanx of the 5th fingerHP:0004220
- Short statureHP:0004322
- Subglottic stenosisHP:0001607