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FG syndrome type 1

ORPHA:93932 · Disease · Disorder

HPO 表現型（共 72 項）

Frequent (79-30%)(48)

  • Abnormal cerebellum morphologyHP:0001317
  • Abnormal large intestine morphologyHP:0002250
  • Abnormal sternum morphologyHP:0000766
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Atrial septal defectHP:0001631
  • Broad neckHP:0000475
  • Broad toeHP:0001837
  • Broad-based gaitHP:0002136
  • CryptorchidismHP:0000028
  • Cupped earHP:0000378
  • Delayed speech and language developmentHP:0000750
  • Dental crowdingHP:0000678
  • Downslanted palpebral fissuresHP:0000494
  • DroolingHP:0002307
  • Frontal upsweep of hairHP:0002236
  • Fused teethHP:0011090
  • Generalized joint hypermobilityHP:0002761
  • Generalized neonatal hypotoniaHP:0008935
  • Global developmental delayHP:0001263
  • High foreheadHP:0000348
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • Limited elbow extension and supinationHP:0005852
  • Long philtrumHP:0000343
  • MacrocephalyHP:0000256
  • Malar flatteningHP:0000272
  • Malrotation of colonHP:0004785
  • MicrognathiaHP:0000347
  • MicrotiaHP:0008551
  • Moderate intellectual disabilityHP:0002342
  • Optic nerve hypoplasiaHP:0000609
  • Pes planusHP:0001763
  • PlagiocephalyHP:0001357
  • Premature birthHP:0001622
  • Prominent noseHP:0000448
  • Prominent occiputHP:0000269
  • Pyloric stenosisHP:0002021
  • Short statureHP:0004322
  • Slender buildHP:0001533
  • Small pituitary glandHP:0012506
  • Stenosis of the external auditory canalHP:0000402
  • StrabismusHP:0000486
  • Thick vermilion borderHP:0012471
  • VentriculomegalyHP:0002119
  • Wide mouthHP:0000154
  • Widely patent fontanelles and suturesHP:0004492

Occasional (29-5%)(24)

  • Abnormal social behaviorHP:0012433
  • Abnormal thumb morphologyHP:0001172
  • Anal atresiaHP:0002023
  • Attention deficit hyperactivity disorderHP:0007018
  • Choanal atresiaHP:0000453
  • Clinodactyly of the 2nd fingerHP:0040022
  • Coarctation of aortaHP:0001680
  • Compulsive behaviorsHP:0000722
  • ConstipationHP:0002019
  • CraniosynostosisHP:0001363
  • Facial wrinklingHP:0009762
  • Finger syndactylyHP:0006101
  • Gastroesophageal refluxHP:0002020
  • HydrocephalusHP:0000238
  • Mitral valve prolapseHP:0001634
  • Open mouthHP:0000194
  • Progressive flexion contracturesHP:0005876
  • Pulmonary arterial hypertensionHP:0002092
  • Sacral dimpleHP:0000960
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short chinHP:0000331
  • Single transverse palmar creaseHP:0000954
  • Umbilical herniaHP:0001537