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Houge-Janssens syndrome type 1

ORPHA:457279 · Clinical subtype · Subtype of disorder

HPO 表現型（共 61 項）

Very frequent (99-80%)(6)

  • Delayed ability to walkHP:0031936
  • Delayed speech and language developmentHP:0000750
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • MacrocephalyHP:0000256
  • Neonatal hypotoniaHP:0001319

Frequent (79-30%)(13)

  • Abnormal facial shapeHP:0001999
  • Abnormal temper tantrumsHP:0025160
  • Abnormality of the eyeHP:0000478
  • Absent speechHP:0001344
  • Aggressive behaviorHP:0000718
  • Autistic behaviorHP:0000729
  • Low frustration toleranceHP:0000744
  • Moderate intellectual disabilityHP:0002342
  • Motor stereotypyHP:0000733
  • Poor speechHP:0002465
  • ScoliosisHP:0002650
  • Severe intellectual disabilityHP:0010864
  • Unsteady gaitHP:0002317

Occasional (29-5%)(16)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormal corpus callosum morphologyHP:0001273
  • Abnormal heart morphologyHP:0001627
  • Arachnoid cystHP:0100702
  • AtaxiaHP:0001251
  • Cavum septum pellucidumHP:0002389
  • Downslanted palpebral fissuresHP:0000494
  • Lateral ventricle dilatationHP:0006956
  • Long faceHP:0000276
  • Low-set earsHP:0000369
  • Midface retrusionHP:0011800
  • Prominent foreheadHP:0011220
  • Short noseHP:0003196
  • StrabismusHP:0000486
  • Triangular faceHP:0000325
  • Ventricular septal defectHP:0001629

Very rare (<4-1%)(26)

  • Alternating esotropiaHP:0001137
  • AreflexiaHP:0001284
  • AstigmatismHP:0000483
  • Atrial septal defectHP:0001631
  • Bicuspid aortic valveHP:0001647
  • Chronic diarrheaHP:0002028
  • Congenital hip dislocationHP:0001374
  • Congenital muscular torticollisHP:0005988
  • Contracture of the proximal interphalangeal joint of the 4th toeHP:0100350
  • DolichocephalyHP:0000268
  • Facial asymmetryHP:0000324
  • Frontal bossingHP:0002007
  • High palateHP:0000218
  • HypoglycemiaHP:0001943
  • Hypoplastic fifth toenailHP:0011937
  • Impaired masticationHP:0005216
  • Long philtrumHP:0000343
  • Patent foramen ovaleHP:0001655
  • PlagiocephalyHP:0001357
  • Pyloric stenosisHP:0002021
  • Rotary nystagmusHP:0001583
  • SeizureHP:0001250
  • Submucous cleft hard palateHP:0000176
  • Supernumerary nippleHP:0002558
  • Thin upper lip vermilionHP:0000219
  • Wide anterior fontanelHP:0000260