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Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

ORPHA:1812 · Malformation syndrome · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(25)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormality of immune system physiologyHP:0010978
  • Agenesis of corpus callosumHP:0001274
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • Dry skinHP:0000958
  • Feeding difficulties in infancyHP:0008872
  • Fine hairHP:0002213
  • Frontal bossingHP:0002007
  • Gait disturbanceHP:0001288
  • HydrocephalusHP:0000238
  • HypertelorismHP:0000316
  • HypohidrosisHP:0000966
  • Hypoplasia of penisHP:0008736
  • Hypoplasia of the zygomatic boneHP:0010669
  • Low-set earsHP:0000369
  • MacrocephalyHP:0000256
  • MicrodontiaHP:0000691
  • RetrognathiaHP:0000278
  • Severe intellectual disabilityHP:0010864
  • Short noseHP:0003196
  • Thin skinHP:0000963
  • VentriculomegalyHP:0002119

Occasional (29-5%)(14)

  • Abnormal eyelid morphologyHP:0000492
  • Abnormal fibula morphologyHP:0002991
  • Aplastic/hypoplastic toenailHP:0010624
  • Cleft palateHP:0000175
  • CryptorchidismHP:0000028
  • Deeply set eyeHP:0000490
  • EpicanthusHP:0000286
  • HypothyroidismHP:0000821
  • HypotoniaHP:0001252
  • Inguinal herniaHP:0000023
  • Pectus excavatumHP:0000767
  • PolyhydramniosHP:0001561
  • Sandal gapHP:0001852
  • Supernumerary nippleHP:0002558