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Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

ORPHA:369891 · Malformation syndrome · Disorder

HPO 表現型（共 66 項）

Very frequent (99-80%)(3)

  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • Motor delayHP:0001270

Frequent (79-30%)(13)

  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • Bulbous noseHP:0000414
  • HypotoniaHP:0001252
  • Low-set earsHP:0000369
  • MacroglossiaHP:0000158
  • Moderate intellectual disabilityHP:0002342
  • Open mouthHP:0000194
  • Poor speechHP:0002465
  • Specific learning disabilityHP:0001328
  • Upslanted palpebral fissureHP:0000582
  • Wide mouthHP:0000154
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(50)

  • Abnormal foot morphologyHP:0001760
  • Abnormal heart morphologyHP:0001627
  • Abnormality of the handHP:0001155
  • Aggressive behaviorHP:0000718
  • AgitationHP:0000713
  • Arthrogryposis-like hand anomalyHP:0005612
  • AtaxiaHP:0001251
  • AutismHP:0000717
  • Bilateral microphthalmosHP:0007633
  • BrachycephalyHP:0000248
  • Broad foreheadHP:0000337
  • CamptodactylyHP:0012385
  • ClinodactylyHP:0030084
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • Downturned corners of mouthHP:0002714
  • EEG abnormalityHP:0002353
  • EpicanthusHP:0000286
  • Frontal upsweep of hairHP:0002236
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • Horizontal eyebrowHP:0011228
  • HyperactivityHP:0000752
  • HypermetropiaHP:0000540
  • HypertelorismHP:0000316
  • IncoordinationHP:0002311
  • Low anterior hairlineHP:0000294
  • MacrotiaHP:0000400
  • Mandibular prognathiaHP:0000303
  • Midface retrusionHP:0011800
  • Multifocal epileptiform dischargesHP:0010841
  • MyopiaHP:0000545
  • Narrow foreheadHP:0000341
  • Ocular anterior segment dysgenesisHP:0007700
  • OverfriendlinessHP:0100025
  • Patent foramen ovaleHP:0001655
  • PlagiocephalyHP:0001357
  • Preauricular skin tagHP:0000384
  • PtosisHP:0000508
  • RestlessnessHP:0000711
  • Round faceHP:0000311
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Spastic paraparesisHP:0002313
  • SyndactylyHP:0001159
  • Triangular faceHP:0000325
  • Umbilical herniaHP:0001537
  • Ventricular septal defectHP:0001629
  • Widely spaced teethHP:0000687