← 返回搜尋

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

ORPHA:363686 · Disease · Disorder

HPO 表現型（共 48 項）

Frequent (79-30%)(18)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Broad foreheadHP:0000337
  • Broad nasal tipHP:0000455
  • Delayed myelinationHP:0012448
  • Facial grimacingHP:0000273
  • Fine hairHP:0002213
  • Floppy infantHP:0008947
  • Generalized non-motor (absence) seizureHP:0002121
  • Global developmental delayHP:0001263
  • HyperactivityHP:0000752
  • Hyperopic astigmatismHP:0000484
  • Long fingersHP:0100807
  • Poor speechHP:0002465
  • Severe intellectual disabilityHP:0010864
  • Short philtrumHP:0000322
  • StrabismusHP:0000486
  • Thin upper lip vermilionHP:0000219
  • Wide mouthHP:0000154

Occasional (29-5%)(30)

  • AstigmatismHP:0000483
  • Autistic behaviorHP:0000729
  • Broad distal phalanx of fingerHP:0009836
  • Chronic constipationHP:0012450
  • Deeply set eyeHP:0000490
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Feeding difficultiesHP:0011968
  • Frontal bossingHP:0002007
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • HypospadiasHP:0000047
  • Inappropriate laughterHP:0000748
  • Incomprehensible speechHP:0002546
  • Intrauterine growth retardationHP:0001511
  • Joint hypermobilityHP:0001382
  • Long palpebral fissureHP:0000637
  • Long toeHP:0010511
  • Low frustration toleranceHP:0000744
  • Lower limb spasticityHP:0002061
  • MicrognathiaHP:0000347
  • Narrow palpebral fissureHP:0045025
  • Obsessive-compulsive traitHP:0008770
  • Optic nerve hypoplasiaHP:0000609
  • Periorbital fullnessHP:0000629
  • Self-mutilationHP:0000742
  • Sleep disturbanceHP:0002360
  • TicsHP:0100033
  • Upslanted palpebral fissureHP:0000582
  • Widely-spaced maxillary central incisorsHP:0001566