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Sanjad-Sakati syndrome

ORPHA:2323 · Malformation syndrome · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(22)

  • Abnormal pinna morphologyHP:0000377
  • Congenital hypoparathyroidismHP:0008198
  • Convex nasal ridgeHP:0000444
  • Deeply set eyeHP:0000490
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal bridgeHP:0005280
  • High foreheadHP:0000348
  • HyperphosphatemiaHP:0002905
  • HypocalcemiaHP:0002901
  • HypoparathyroidismHP:0000829
  • Intellectual disabilityHP:0001249
  • Long philtrumHP:0000343
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Posteriorly rotated earsHP:0000358
  • Postnatal growth retardationHP:0008897
  • SeizureHP:0001250
  • Severe intrauterine growth retardationHP:0008846
  • Short footHP:0001773
  • Short statureHP:0004322
  • Small handHP:0200055
  • Thin vermilion borderHP:0000233

Frequent (79-30%)(3)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormality of the dentitionHP:0000164
  • Recurrent respiratory infectionsHP:0002205

Occasional (29-5%)(11)

  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • AstigmatismHP:0000483
  • Cellular immunodeficiencyHP:0005374
  • Corneal opacityHP:0007957
  • CryptorchidismHP:0000028
  • Hypoplasia of penisHP:0008736
  • Intestinal obstructionHP:0005214
  • MyopathyHP:0003198
  • Patchy osteosclerosisHP:0005686
  • Spinal canal stenosisHP:0003416
  • VentriculomegalyHP:0002119