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Microcephalic osteodysplastic primordial dwarfism types I and III
ORPHA:2636 · Malformation syndrome · Disorder
HPO 表現型（共 74 項）
Very frequent (99-80%)(62)
- Abnormal circulating calcium-phosphate regulating hormone concentrationHP:0100530
- Abnormal distal phalanx morphology of fingerHP:0009832
- Abnormal finger morphologyHP:0001167
- Abnormal intervertebral disk morphologyHP:0005108
- Abnormal metacarpal morphologyHP:0005916
- Abnormal metaphysis morphologyHP:0000944
- Abnormal pubic bone morphologyHP:0003172
- Abnormal vertebral body morphologyHP:0003312
- Abnormality of the kidneyHP:0000077
- Abnormality of the skeletal systemHP:0000924
- Abnormality of the upper urinary tractHP:0010935
- Abnormality of the urinary systemHP:0000079
- Abnormally ossified vertebraeHP:0100569
- AlopeciaHP:0001596
- Aplasia/hypoplasia of the femurHP:0005613
- Aplastic clavicleHP:0006660
- Bifid femurHP:0010443
- Bilateral single transverse palmar creasesHP:0007598
- BrachydactylyHP:0001156
- Broad distal phalanx of fingerHP:0009836
- Bulbous noseHP:0000414
- Delayed skeletal maturationHP:0002750
- DyspneaHP:0002094
- Epileptic spasmHP:0011097
- Generalized non-motor (absence) seizureHP:0002121
- GlaucomaHP:0000501
- Global developmental delayHP:0001263
- HydronephrosisHP:0000126
- HydroureterHP:0000072
- HypertoniaHP:0001276
- Intellectual disabilityHP:0001249
- Intrauterine growth retardationHP:0001511
- Large handsHP:0001176
- Large iliac wingHP:0008818
- Long noseHP:0003189
- Loss of eyelashesHP:0011457
- Low-set earsHP:0000369
- MicrocephalyHP:0000252
- MicrognathiaHP:0000347
- MicromeliaHP:0002983
- Muscle stiffnessHP:0003552
- OsteomalaciaHP:0002749
- OsteopeniaHP:0000938
- OsteoporosisHP:0000939
- Posteriorly rotated earsHP:0000358
- Premature birthHP:0001622
- Prominent noseHP:0000448
- Prominent occiputHP:0000269
- ProptosisHP:0000520
- Respiratory failureHP:0002878
- RetrognathiaHP:0000278
- RicketsHP:0002748
- RigidityHP:0002063
- SeizureHP:0001250
- Severe short statureHP:0003510
- Short neckHP:0000470
- Short palmHP:0004279
- Sparse hairHP:0008070
- SpasticityHP:0001257
- Specific learning disabilityHP:0001328
- Status epilepticusHP:0002133
- Thin eyebrowHP:0045074
Frequent (79-30%)(12)
- Abnormal tragus morphologyHP:0009912
- Bifid uvulaHP:0000193
- Cleft palateHP:0000175
- Clinodactyly of the 5th fingerHP:0004209
- CryptorchidismHP:0000028
- DolichocephalyHP:0000268
- Downslanted palpebral fissuresHP:0000494
- Malar flatteningHP:0000272
- Sloping foreheadHP:0000340
- Submucous cleft hard palateHP:0000176
- Thick vermilion borderHP:0012471
- Thickened nuchal skin foldHP:0000474