← 返回搜尋

Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

ORPHA:391408 · Disease · Disorder

HPO 表現型（共 67 項）

Very frequent (99-80%)(6)

  • Diabetes mellitusHP:0000819
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Primary microcephalyHP:0011451
  • Proportionate short statureHP:0003508
  • Small for gestational ageHP:0001518

Frequent (79-30%)(8)

  • Abnormal facial shapeHP:0001999
  • Decreased body weightHP:0004325
  • Delayed pubertyHP:0000823
  • Global developmental delayHP:0001263
  • HypoglycemiaHP:0001943
  • Intrauterine growth retardationHP:0001511
  • Poor speechHP:0002465
  • SeizureHP:0001250

Occasional (29-5%)(53)

  • Abnormally high-pitched voiceHP:0001620
  • Anteverted naresHP:0000463
  • Axial hypotoniaHP:0008936
  • Blue scleraeHP:0000592
  • Brisk reflexesHP:0001348
  • Broad-based gaitHP:0002136
  • Cerebellar hypoplasiaHP:0001321
  • ClinodactylyHP:0030084
  • Delayed myelinationHP:0012448
  • Deviation of the 5th toeHP:0010344
  • Distal muscle weaknessHP:0002460
  • Dorsocervical fat padHP:0025383
  • Down-sloping shouldersHP:0200021
  • Downslanted palpebral fissuresHP:0000494
  • Downturned corners of mouthHP:0002714
  • EpicanthusHP:0000286
  • Fine hairHP:0002213
  • Full cheeksHP:0000293
  • Hypoplasia of teethHP:0000685
  • Hypoplasia of the brainstemHP:0002365
  • Hypoplasia of the corpus callosumHP:0002079
  • HypotelorismHP:0000601
  • HypothyroidismHP:0000821
  • Joint hypermobilityHP:0001382
  • KetosisHP:0001946
  • KyphoscoliosisHP:0002751
  • Long philtrumHP:0000343
  • Low anterior hairlineHP:0000294
  • MacrotiaHP:0000400
  • MicrognathiaHP:0000347
  • Narrow faceHP:0000275
  • Narrow foreheadHP:0000341
  • Narrow mouthHP:0000160
  • OligodontiaHP:0000677
  • Pectus excavatumHP:0000767
  • Pes valgusHP:0008081
  • Round faceHP:0000311
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • Severe demyelination of the white matterHP:0007258
  • Severe intellectual disabilityHP:0010864
  • Severe postnatal growth retardationHP:0008850
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Short philtrumHP:0000322
  • Slender fingerHP:0001238
  • Slender toeHP:0011308
  • Small faceHP:0000274
  • Sparse hairHP:0008070
  • Spastic paraparesisHP:0002313
  • SynophrysHP:0000664
  • Thin upper lip vermilionHP:0000219
  • Wide noseHP:0000445