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Autosomal recessive primary microcephaly

ORPHA:2512 · Etiological subtype · Subtype of disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(9)

  • Global developmental delayHP:0001263
  • Gray matter heterotopiaHP:0002282
  • Growth delayHP:0001510
  • MicrocephalyHP:0000252
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • Sloping foreheadHP:0000340
  • Thin upper lip vermilionHP:0000219
  • Upslanted palpebral fissureHP:0000582

Frequent (79-30%)(8)

  • Abnormal cortical bone morphologyHP:0003103
  • Agenesis of corpus callosumHP:0001274
  • HyperreflexiaHP:0001347
  • Hypoplasia of the frontal lobesHP:0007333
  • PachygyriaHP:0001302
  • Unilateral renal agenesisHP:0000122
  • VentriculomegalyHP:0002119
  • Vesicoureteral refluxHP:0000076