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19q13.11 microdeletion syndrome

ORPHA:217346 · Malformation syndrome · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(11)

  • Aplasia cutis congenitaHP:0001057
  • CachexiaHP:0004326
  • Clinodactyly of the 5th fingerHP:0004209
  • Delayed speech and language developmentHP:0000750
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • HypospadiasHP:0000047
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252

Frequent (79-30%)(20)

  • Broad columellaHP:0010761
  • CryptorchidismHP:0000028
  • Dry skinHP:0000958
  • Fine hairHP:0002213
  • Finger syndactylyHP:0006101
  • High foreheadHP:0000348
  • Long faceHP:0000276
  • Nail dysplasiaHP:0002164
  • Recurrent respiratory infectionsHP:0002205
  • RetrognathiaHP:0000278
  • Sparse hairHP:0008070
  • Sparse lateral eyebrowHP:0005338
  • Sparse or absent eyelashesHP:0200102
  • Supernumerary nippleHP:0002558
  • Thin skinHP:0000963
  • Thin vermilion borderHP:0000233
  • Toe clinodactylyHP:0001863
  • Toe syndactylyHP:0001770
  • Underdeveloped nasal alaeHP:0000430
  • Wide intermamillary distanceHP:0006610

Occasional (29-5%)(9)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Bifid scrotumHP:0000048
  • CataractHP:0000518
  • Congenital hip dislocationHP:0001374
  • Hearing impairmentHP:0000365
  • MicrocorneaHP:0000482
  • Solitary median maxillary central incisorHP:0006315
  • Ventricular septal defectHP:0001629
  • Wide mouthHP:0000154