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Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

ORPHA:477993 · Malformation syndrome · Disorder

HPO 表現型（共 42 項）

Frequent (79-30%)(14)

  • Abnormal palate morphologyHP:0000174
  • Abnormality of canineHP:0011078
  • BrachydactylyHP:0001156
  • Delayed ability to walkHP:0031936
  • Delayed speech and language developmentHP:0000750
  • Downslanted palpebral fissuresHP:0000494
  • ExotropiaHP:0000577
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Prominent foreheadHP:0011220
  • StrabismusHP:0000486
  • Thin upper lip vermilionHP:0000219
  • Wide nasal bridgeHP:0000431
  • Widely spaced teethHP:0000687

Occasional (29-5%)(28)

  • Anteverted naresHP:0000463
  • Bilateral ptosisHP:0001488
  • Blue scleraeHP:0000592
  • Cerebral white matter hypoplasiaHP:0012430
  • ChordeeHP:0000041
  • Clinodactyly of the 5th fingerHP:0004209
  • ClonusHP:0002169
  • ColpocephalyHP:0030048
  • CryptorchidismHP:0000028
  • Delayed myelinationHP:0012448
  • Enlarged cerebellumHP:0012081
  • High anterior hairlineHP:0009890
  • HypertelorismHP:0000316
  • HypertrichosisHP:0000998
  • Hypoplasia of the corpus callosumHP:0002079
  • Hypoplastic toenailsHP:0001800
  • HypospadiasHP:0000047
  • Lower limb hypertoniaHP:0006895
  • MacrocephalyHP:0000256
  • Narrow nasal tipHP:0011832
  • Oculomotor apraxiaHP:0000657
  • Patent foramen ovaleHP:0001655
  • Short thumbHP:0009778
  • Sparse eyebrowHP:0045075
  • Sparse scalp hairHP:0002209
  • Supernumerary nippleHP:0002558
  • SynophrysHP:0000664
  • Tapered fingerHP:0001182