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Silver-Russell syndrome due to a point mutation

ORPHA:397590 · Etiological subtype · Subtype of disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(9)

  • Clinodactyly of the 5th fingerHP:0004209
  • Feeding difficulties in infancyHP:0008872
  • Intrauterine growth retardationHP:0001511
  • MicrognathiaHP:0000347
  • Postnatal growth retardationHP:0008897
  • Prominent foreheadHP:0011220
  • Relative macrocephalyHP:0004482
  • Small for gestational ageHP:0001518
  • Triangular faceHP:0000325

Frequent (79-30%)(10)

  • Abnormal scrotum morphologyHP:0000045
  • Abnormality of the cardiovascular systemHP:0001626
  • Cleft palateHP:0000175
  • Delayed speech and language developmentHP:0000750
  • HypospadiasHP:0000047
  • Low-set earsHP:0000369
  • Motor delayHP:0001270
  • OligohydramniosHP:0001562
  • Short 5th fingerHP:0009237
  • SyndactylyHP:0001159

Occasional (29-5%)(17)

  • AsthmaHP:0002099
  • Asymmetric growthHP:0100555
  • Attention deficit hyperactivity disorderHP:0007018
  • Bifid scrotumHP:0000048
  • Cafe-au-lait spotHP:0000957
  • CryptorchidismHP:0000028
  • DysmenorrheaHP:0100607
  • EctrodactylyHP:0100257
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • HypoglycemiaHP:0001943
  • Hypoplastic fingernailHP:0001804
  • HypothyroidismHP:0000821
  • Inguinal herniaHP:0000023
  • MicrophallusHP:0030260
  • PolydactylyHP:0010442
  • Small placentaHP:0006266