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MAN1B1-CDG

ORPHA:397941 · Disease · Disorder

HPO 表現型（共 53 項）

Very frequent (99-80%)(4)

  • Abnormal facial shapeHP:0001999
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(9)

  • Abnormal brain morphologyHP:0012443
  • Downslanted palpebral fissuresHP:0000494
  • HypertelorismHP:0000316
  • Low-set earsHP:0000369
  • MacrotiaHP:0000400
  • Mild intellectual disabilityHP:0001256
  • Poor speechHP:0002465
  • Truncal obesityHP:0001956
  • Type II transferrin isoform profileHP:0012301

Occasional (29-5%)(29)

  • Abnormal position of hair whorlHP:0010814
  • Atypical behaviorHP:0000708
  • AutismHP:0000717
  • Broad-based gaitHP:0002136
  • Cerebellar hypoplasiaHP:0001321
  • Cutis laxaHP:0000973
  • DolichocephalyHP:0000268
  • Frontal bossingHP:0002007
  • HypermetropiaHP:0000540
  • Inverted nipplesHP:0003186
  • Joint hypermobilityHP:0001382
  • Long eyebrowsHP:0004523
  • Malar flatteningHP:0000272
  • Moderate intellectual disabilityHP:0002342
  • Pectus carinatumHP:0000768
  • Pointed chinHP:0000307
  • PolyphagiaHP:0002591
  • Prominent noseHP:0000448
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Short chinHP:0000331
  • Short neckHP:0000470
  • Short philtrumHP:0000322
  • Smooth philtrumHP:0000319
  • Sparse eyebrowHP:0045075
  • Thin upper lip vermilionHP:0000219
  • Underdeveloped nasolabial foldHP:0010801
  • Wide nasal bridgeHP:0000431
  • Wide noseHP:0000445

Very rare (<4-1%)(11)

  • 2-3 toe syndactylyHP:0004691
  • Clinodactyly of the 5th fingerHP:0004209
  • EclabionHP:0012472
  • EpicanthusHP:0000286
  • Flat occiputHP:0005469
  • Long eyelashesHP:0000527
  • Long faceHP:0000276
  • Multiple cafe-au-lait spotsHP:0007565
  • Periventricular heterotopiaHP:0007165
  • Resting tremorHP:0002322
  • Thick vermilion borderHP:0012471