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Autosomal recessive distal osteolysis syndrome
ORPHA:2776 · Malformation syndrome · Disorder
HPO 表現型(共 9 項)
Very frequent (99-80%)(9)
- Abnormality of the dentitionHP:0000164
- Broad nasal tipHP:0000455
- Hypoplasia of the maxillaHP:0000327
- Midface retrusionHP:0011800
- Mild intellectual disabilityHP:0001256
- OsteolysisHP:0002797
- ProptosisHP:0000520
- Short distal phalanx of fingerHP:0009882
- Short statureHP:0004322