← 返回搜尋

MEND syndrome

ORPHA:401973 · Malformation syndrome · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(2)

  • Elevated 8-dehydrocholesterolHP:0003462
  • Elevated 8(9)-cholestenolHP:0003465

Frequent (79-30%)(39)

  • 2-3 toe syndactylyHP:0004691
  • Abnormal auditory evoked potentialsHP:0006958
  • Abnormal nasal bridge morphologyHP:0000422
  • Abnormal social behaviorHP:0012433
  • Aortic valve stenosisHP:0001650
  • Asymmetry of the mouthHP:0009941
  • Broad halluxHP:0010055
  • CataractHP:0000518
  • CryptorchidismHP:0000028
  • Dandy-Walker malformationHP:0001305
  • Failure to thriveHP:0001508
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • Hand polydactylyHP:0001161
  • High palateHP:0000218
  • HydrocephalusHP:0000238
  • HypertelorismHP:0000316
  • Hypoplasia of the corpus callosumHP:0002079
  • IchthyosisHP:0008064
  • Intellectual disabilityHP:0001249
  • KyphosisHP:0002808
  • Limb hypertoniaHP:0002509
  • Long fingersHP:0100807
  • Long neckHP:0000472
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • MicrophthalmiaHP:0000568
  • Midface retrusionHP:0011800
  • Overlapping fingersHP:0010557
  • Overlapping toeHP:0001845
  • Prominent nasal bridgeHP:0000426
  • Sacral dimpleHP:0000960
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Spotty hypopigmentationHP:0005590
  • TelecanthusHP:0000506
  • Thickened nuchal skin foldHP:0000474
  • Upslanted palpebral fissureHP:0000582
  • Wide anterior fontanelHP:0000260

Occasional (29-5%)(4)

  • Abnormal heart morphologyHP:0001627
  • Aggressive behaviorHP:0000718
  • Cleft palateHP:0000175
  • HyperactivityHP:0000752