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Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
ORPHA:508533 · Disease · Disorder
HPO 表現型（共 95 項）
Very frequent (99-80%)(4)
- Abnormality of the skeletal systemHP:0000924
- Global developmental delayHP:0001263
- Motor delayHP:0001270
- Severe platyspondylyHP:0004565
Frequent (79-30%)(29)
- Abnormal facial shapeHP:0001999
- Abnormal ilium morphologyHP:0002867
- Abnormal limb bone morphologyHP:0002813
- Abnormal thorax morphologyHP:0000765
- Abnormality of the cervical spineHP:0003319
- Acetabular dysplasiaHP:0008807
- Aplasia/hypoplasia involving bones of the extremitiesHP:0045060
- BrachydactylyHP:0001156
- Broad metacarpalsHP:0001230
- Broad phalanges of the handHP:0009768
- Decreased circulating immunoglobulin concentrationHP:0004313
- Decreased mitogen-induced T-cell proliferationHP:0031381
- Decreased total lymphocyte countHP:0001888
- Decreased total T cell countHP:0005403
- Delayed ability to sitHP:0025336
- Disproportionate short statureHP:0003498
- Frontal bossingHP:0002007
- Hypoplasia of the odontoid processHP:0003311
- HyporeflexiaHP:0001265
- HypotoniaHP:0001252
- Intellectual disabilityHP:0001249
- KyphosisHP:0002808
- MicrocephalyHP:0000252
- Narrow greater sciatic notchHP:0003375
- Severely increased total eosinophil countHP:0032061
- Short metacarpalHP:0010049
- Short noseHP:0003196
- Short phalanx of fingerHP:0009803
- Specific learning disabilityHP:0001328
Occasional (29-5%)(62)
- Absent speechHP:0001344
- Anteverted naresHP:0000463
- Axial hypotoniaHP:0008936
- Broad ischiaHP:0100865
- Bulbous noseHP:0000414
- Capillary hemangiomaHP:0005306
- Cervical cord compressionHP:0002341
- Cervical instabilityHP:0008462
- Cervical spinal canal stenosisHP:0008445
- Cloverleaf skullHP:0002676
- Coarse facial featuresHP:0000280
- CraniosynostosisHP:0001363
- Decreased circulating IgG concentrationHP:0004315
- Decreased circulating IgM concentrationHP:0002850
- Decreased total CD4+ T cell proportionHP:0032218
- Decreased total CD8+ T cell proportionHP:0005415
- Deeply set eyeHP:0000490
- Delayed skeletal maturationHP:0002750
- Depressed nasal bridgeHP:0005280
- Distal lower limb muscle weaknessHP:0009053
- DroolingHP:0002307
- Elbow flexion contractureHP:0002987
- Enlarged metaphysesHP:0003051
- Focal myoclonic seizureHP:0011166
- Full cheeksHP:0000293
- Generalized hypotoniaHP:0001290
- Generalized-onset seizureHP:0002197
- Gingival overgrowthHP:0000212
- HepatomegalyHP:0002240
- Horseshoe kidneyHP:0000085
- HyperreflexiaHP:0001347
- HypertoniaHP:0001276
- Hypoplasia of the corpus callosumHP:0002079
- Inability to walkHP:0002540
- Increased circulating IgE concentrationHP:0003212
- Increased intervertebral spaceHP:0030320
- Laryngotracheal stenosisHP:0004894
- Limb undergrowthHP:0009826
- Limited elbow movementHP:0002996
- Long faceHP:0000276
- Long noseHP:0003189
- Long philtrumHP:0000343
- Lumbar hyperlordosisHP:0002938
- MicrognathiaHP:0000347
- Mitral valve prolapseHP:0001634
- Motor stereotypyHP:0000733
- Narrow mouthHP:0000160
- No social interactionHP:0008763
- NystagmusHP:0000639
- Open mouthHP:0000194
- OpisthotonusHP:0002179
- PolyhydramniosHP:0001561
- Postaxial foot polydactylyHP:0001830
- Preaxial hand polydactylyHP:0001177
- ProptosisHP:0000520
- Recurrent pneumoniaHP:0006532
- Sacral dimpleHP:0000960
- SeizureHP:0001250
- Severe combined immunodeficiencyHP:0004430
- Severe global developmental delayHP:0011344
- Thoracolumbar kyphosisHP:0005619
- VentriculomegalyHP:0002119