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DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

ORPHA:268261 · Etiological subtype · Subtype of disorder

HPO 表現型（共 97 項）

Very frequent (99-80%)(6)

  • Abnormal facial shapeHP:0001999
  • Brain imaging abnormalityHP:0410263
  • Feeding difficultiesHP:0011968
  • Gait disturbanceHP:0001288
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(22)

  • 2-4 toe cutaneous syndactylyHP:0005768
  • Abnormal foot morphologyHP:0001760
  • Abnormal toe morphologyHP:0001780
  • Abnormality of the eyeHP:0000478
  • Abnormality of the genitourinary systemHP:0000119
  • Absent speechHP:0001344
  • AtaxiaHP:0001251
  • Broad-based gaitHP:0002136
  • CNS hypomyelinationHP:0003429
  • ConstipationHP:0002019
  • Failure to thrive in infancyHP:0001531
  • Hypoplasia of the brainstemHP:0002365
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Poor speechHP:0002465
  • Posterior pituitary hypoplasiaHP:0011757
  • Prominent nasal bridgeHP:0000426
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518
  • Tapered fingerHP:0001182
  • VentriculomegalyHP:0002119

Occasional (29-5%)(48)

  • Abnormal optic chiasm morphologyHP:0025163
  • Abnormality of the endocrine systemHP:0000818
  • Aggressive behaviorHP:0000718
  • AnxietyHP:0000739
  • Atonic seizureHP:0010819
  • Autistic behaviorHP:0000729
  • Bilateral tonic-clonic seizureHP:0002069
  • Broad chinHP:0011822
  • Broad nasal tipHP:0000455
  • CataractHP:0000518
  • Cerebral cortical atrophyHP:0002120
  • ChordeeHP:0000041
  • CryptorchidismHP:0000028
  • Deeply set eyeHP:0000490
  • Dilatation of the renal pelvisHP:0010946
  • DysphagiaHP:0002015
  • EsotropiaHP:0000565
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • Gastroesophageal refluxHP:0002020
  • Generalized myoclonic seizureHP:0002123
  • GliosisHP:0002171
  • Hallux valgusHP:0001822
  • HypermetropiaHP:0000540
  • HypertoniaHP:0001276
  • Hypoplasia of the corpus callosumHP:0002079
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • KyphosisHP:0002808
  • MyopiaHP:0000545
  • Nasogastric tube feeding in infancyHP:0011470
  • OligohydramniosHP:0001562
  • Pectus excavatumHP:0000767
  • Poor suckHP:0002033
  • Protruding earHP:0000411
  • Pyloric stenosisHP:0002021
  • Recurrent urinary tract infectionsHP:0000010
  • RetrognathiaHP:0000278
  • ScoliosisHP:0002650
  • Shawl scrotumHP:0000049
  • Short 5th toeHP:0011917
  • Short noseHP:0003196
  • Sleep disturbanceHP:0002360
  • Stereotypical hand wringingHP:0012171
  • StrabismusHP:0000486
  • Typical absence seizureHP:0011147
  • Underdeveloped nasal alaeHP:0000430
  • Unilateral renal agenesisHP:0000122
  • Upslanted palpebral fissureHP:0000582

Very rare (<4-1%)(21)

  • Abnormal heart morphologyHP:0001627
  • Abnormal pulmonary valve morphologyHP:0001641
  • Aortic regurgitationHP:0001659
  • Aortic valve stenosisHP:0001650
  • AstigmatismHP:0000483
  • Breast aplasiaHP:0100783
  • Cleft soft palateHP:0000185
  • Decreased response to growth hormone stimulation testHP:0000824
  • Hearing impairmentHP:0000365
  • HypothyroidismHP:0000821
  • Iris colobomaHP:0000612
  • MicropenisHP:0000054
  • Mild intellectual disabilityHP:0001256
  • OsteochondrosisHP:0040188
  • PolydactylyHP:0010442
  • Premature thelarcheHP:0010314
  • Retinal detachmentHP:0000541
  • Sacral dimpleHP:0000960
  • Supernumerary toothHP:0011069
  • Ventricular septal defectHP:0001629
  • Widely spaced teethHP:0000687