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Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome

ORPHA:500159 · Malformation syndrome · Disorder

HPO 表現型（共 50 項）

Very frequent (99-80%)(2)

  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(11)

  • Abnormal heart morphologyHP:0001627
  • Absent speechHP:0001344
  • Atypical behaviorHP:0000708
  • Feeding difficultiesHP:0011968
  • Feeding difficulties in infancyHP:0008872
  • Floppy infantHP:0008947
  • MicrocephalyHP:0000252
  • Motor delayHP:0001270
  • Motor stereotypyHP:0000733
  • Poor speechHP:0002465
  • SeizureHP:0001250

Occasional (29-5%)(37)

  • Abnormal earlobe morphologyHP:0000363
  • Abnormal facial shapeHP:0001999
  • Abnormal periventricular white matter morphologyHP:0002518
  • Abnormal size of the palpebral fissuresHP:0200007
  • AcromesomeliaHP:0003086
  • Anteverted naresHP:0000463
  • Bicuspid aortic valveHP:0001647
  • Cerebellar dysplasiaHP:0007033
  • Cerebellar hypoplasiaHP:0001321
  • Congenital sensorineural hearing impairmentHP:0008527
  • CryptorchidismHP:0000028
  • Diabetes mellitusHP:0000819
  • Eczematoid dermatitisHP:0000964
  • Enlarged cisterna magnaHP:0002280
  • Highly arched eyebrowHP:0002553
  • Hypoplasia of the brainstemHP:0002365
  • Hypoplasia of the corpus callosumHP:0002079
  • HypospadiasHP:0000047
  • Joint hypermobilityHP:0001382
  • Low hanging columellaHP:0009765
  • MacrocephalyHP:0000256
  • Moderately reduced visual acuityHP:0030515
  • Open mouthHP:0000194
  • Patent ductus arteriosusHP:0001643
  • Patent foramen ovaleHP:0001655
  • PlagiocephalyHP:0001357
  • PolymicrogyriaHP:0002126
  • Prominent nasal bridgeHP:0000426
  • Recurrent otitis mediaHP:0000403
  • Recurrent pneumoniaHP:0006532
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • Short 5th fingerHP:0009237
  • TracheobronchomalaciaHP:0002786
  • Umbilical herniaHP:0001537
  • Ventricular septal defectHP:0001629
  • VentriculomegalyHP:0002119