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Temple syndrome due to maternal uniparental disomy of chromosome 14

ORPHA:96184 · Etiological subtype · Subtype of disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(6)

  • HypotoniaHP:0001252
  • Motor delayHP:0001270
  • Postnatal growth retardationHP:0008897
  • Precocious pubertyHP:0000826
  • Short footHP:0001773
  • Small handHP:0200055

Frequent (79-30%)(9)

  • Delayed speech and language developmentHP:0000750
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • Joint hypermobilityHP:0001382
  • ObesityHP:0001513
  • Premature birthHP:0001622
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518
  • Truncal obesityHP:0001956

Occasional (29-5%)(20)

  • Anteverted naresHP:0000463
  • Bifid uvulaHP:0000193
  • Cleft palateHP:0000175
  • ClinodactylyHP:0030084
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • Feeding difficultiesHP:0011968
  • Full cheeksHP:0000293
  • High palateHP:0000218
  • HypercholesterolemiaHP:0003124
  • Maturity-onset diabetes of the youngHP:0004904
  • MicrognathiaHP:0000347
  • Narrow mouthHP:0000160
  • Poor fine motor coordinationHP:0007010
  • Prominent foreheadHP:0011220
  • Pyloric stenosisHP:0002021
  • Recurrent otitis mediaHP:0000403
  • ScoliosisHP:0002650
  • Short philtrumHP:0000322
  • Wide noseHP:0000445