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Pseudoaminopterin syndrome

ORPHA:221120 · Malformation syndrome · Disorder

HPO 表現型（共 63 項）

Frequent (79-30%)(17)

  • Abnormal temporal bone morphologyHP:0009911
  • Abnormality of limbsHP:0040064
  • BlepharophimosisHP:0000581
  • CryptorchidismHP:0000028
  • Frontal upsweep of hairHP:0002236
  • High palateHP:0000218
  • Highly arched eyebrowHP:0002553
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Limited elbow movementHP:0002996
  • MicrognathiaHP:0000347
  • Patchy reduction of bone mineral densityHP:0010657
  • Posteriorly rotated earsHP:0000358
  • Prominent nasal bridgeHP:0000426
  • ProptosisHP:0000520
  • Short statureHP:0004322
  • Underdeveloped supraorbital ridgesHP:0009891

Occasional (29-5%)(46)

  • Absent earlobeHP:0000387
  • AspleniaHP:0001746
  • BrachydactylyHP:0001156
  • Broad foreheadHP:0000337
  • Clinodactyly of the 4th fingerHP:0040025
  • Clinodactyly of the 5th toeHP:0001864
  • Clubbing of fingersHP:0100759
  • DolichocephalyHP:0000268
  • EpicanthusHP:0000286
  • Facial asymmetryHP:0000324
  • Fatigable weaknessHP:0003473
  • Floppy infantHP:0008947
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • Hip subluxationHP:0030043
  • Horseshoe kidneyHP:0000085
  • HydrocephalusHP:0000238
  • Hypernasal speechHP:0001611
  • Hypoplasia of the antihelixHP:0009739
  • Inguinal herniaHP:0000023
  • Inverted nipplesHP:0003186
  • MacrocephalyHP:0000256
  • MicrodontiaHP:0000691
  • Mild conductive hearing impairmentHP:0008598
  • Nasogastric tube feeding in infancyHP:0011470
  • OphthalmoplegiaHP:0000602
  • Orofacial cleftHP:0000202
  • Overlapping toeHP:0001845
  • Patent foramen ovaleHP:0001655
  • Pectus excavatumHP:0000767
  • Pes planusHP:0001763
  • Poor suckHP:0002033
  • Postaxial polydactylyHP:0100259
  • Posterolateral diaphragmatic herniaHP:0025193
  • Prominent sternumHP:0000884
  • Sacrococcygeal pilonidal abnormalityHP:0010767
  • Sagittal craniosynostosisHP:0004442
  • Short 4th metacarpalHP:0010044
  • Short philtrumHP:0000322
  • Short thumbHP:0009778
  • Single transverse palmar creaseHP:0000954
  • Slender fingerHP:0001238
  • Sparse scalp hairHP:0002209
  • Synostosis of carpal bonesHP:0005048
  • Talipes valgusHP:0004684
  • Wide intermamillary distanceHP:0006610