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Combined immunodeficiency with facio-oculo-skeletal anomalies

ORPHA:221139 · Disease · Disorder

HPO 表現型（共 69 項）

Frequent (79-30%)(66)

  • Abnormal facial shapeHP:0001999
  • Abnormal T cell subset numberHP:0025540
  • Abnormality of the chinHP:0000306
  • Abnormality of the skeletal systemHP:0000924
  • Anteverted naresHP:0000463
  • Arteria lusoriaHP:0031014
  • ArthritisHP:0001369
  • AtaxiaHP:0001251
  • Broad middle phalanx of fingerHP:0009844
  • Broad nasal tipHP:0000455
  • Chronic decreased circulating IgA concentrationHP:0003460
  • Clinodactyly of the 2nd fingerHP:0040022
  • Clinodactyly of the 3rd fingerHP:0040024
  • Clinodactyly of the 4th fingerHP:0040025
  • Combined immunodeficiencyHP:0005387
  • Cone-shaped epiphysisHP:0010579
  • Decreased anti-CD3/28-induced T-cell proliferationHP:0031382
  • Decreased circulating IgM concentrationHP:0002850
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Decreased circulating total IgG concentrationHP:0032132
  • Decreased mitogen-induced T-cell proliferationHP:0031381
  • Decreased specific antibody response to vaccinationHP:0032140
  • Decreased total B cell countHP:0010976
  • Decreased total CD4+ T cell proportionHP:0032218
  • Deeply set eyeHP:0000490
  • Depressed nasal bridgeHP:0005280
  • DermatochalasisHP:0010750
  • Gastroesophageal refluxHP:0002020
  • Generalized myoclonic seizureHP:0002123
  • Global developmental delayHP:0001263
  • High foreheadHP:0000348
  • HyperlordosisHP:0003307
  • Hyperpigmentation of the skinHP:0000953
  • HypertelorismHP:0000316
  • HypertrichosisHP:0000998
  • Intellectual disabilityHP:0001249
  • Intention tremorHP:0002080
  • Lacrimal duct stenosisHP:0007678
  • Low posterior hairlineHP:0002162
  • Myopathic faciesHP:0002058
  • Nasogastric tube feedingHP:0040288
  • Neonatal hypotoniaHP:0001319
  • Neonatal respiratory distressHP:0002643
  • Optic nerve hypoplasiaHP:0000609
  • OsteopeniaHP:0000938
  • Palpebral edemaHP:0100540
  • Pes cavusHP:0001761
  • Positive Romberg signHP:0002403
  • Protruding earHP:0000411
  • Psoriasiform dermatitisHP:0003765
  • Recurrent aspiration pneumoniaHP:0002100
  • Recurrent bacterial infectionsHP:0002718
  • Recurrent ear infectionsHP:0410018
  • Recurrent fungal infectionsHP:0002841
  • Recurrent oral thrushHP:0009098
  • Recurrent urinary tract infectionsHP:0000010
  • Recurrent viral infectionsHP:0004429
  • Reduced total natural killer cell countHP:0040218
  • Short distal phalanx of the thumbHP:0009650
  • Thin lower lip vermilionHP:0010282
  • Umbilical herniaHP:0001537
  • Underdeveloped supraorbital ridgesHP:0009891
  • Unilateral renal agenesisHP:0000122
  • VentriculomegalyHP:0002119
  • Wide intermamillary distanceHP:0006610
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(3)

  • DiarrheaHP:0002014
  • Flat foreheadHP:0004425
  • Frontal bossingHP:0002007