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TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome

ORPHA:488632 · Malformation syndrome · Disorder

HPO 表現型（共 73 項）

Very frequent (99-80%)(4)

  • EMG: chronic denervation signsHP:0003444
  • Neonatal hypotoniaHP:0001319
  • Progressive muscle weaknessHP:0003323
  • Severe muscular hypotoniaHP:0006829

Frequent (79-30%)(16)

  • Abnormal circulating lipid concentrationHP:0003119
  • Abnormal facial shapeHP:0001999
  • Abnormal periventricular white matter morphologyHP:0002518
  • AreflexiaHP:0001284
  • Coarse facial featuresHP:0000280
  • Delayed speech and language developmentHP:0000750
  • Diminished deep tendon reflexHP:0001315
  • Global brain atrophyHP:0002283
  • Hypoplasia of the corpus callosumHP:0002079
  • Inability to walkHP:0002540
  • Multifocal seizuresHP:0031165
  • Respiratory insufficiencyHP:0002093
  • SeizureHP:0001250
  • Severe global developmental delayHP:0011344
  • Skeletal muscle atrophyHP:0003202
  • VentriculomegalyHP:0002119

Occasional (29-5%)(22)

  • Broad foreheadHP:0000337
  • Bulbous noseHP:0000414
  • Cognitive impairmentHP:0100543
  • Delayed skeletal maturationHP:0002750
  • Developmental regressionHP:0002376
  • EEG with generalized epileptiform dischargesHP:0011198
  • EMG: myokymic dischargesHP:0100288
  • EpicanthusHP:0000286
  • High, narrow palateHP:0002705
  • HirsutismHP:0001007
  • HypothermiaHP:0002045
  • HypothyroidismHP:0000821
  • Limb undergrowthHP:0009826
  • MacrocephalyHP:0000256
  • MacroglossiaHP:0000158
  • OsteoporosisHP:0000939
  • Pectus excavatumHP:0000767
  • ScoliosisHP:0002650
  • Sloping foreheadHP:0000340
  • Tented upper lip vermilionHP:0010804
  • Thick eyebrowHP:0000574
  • Ventricular septal defectHP:0001629

Very rare (<4-1%)(31)

  • 11 pairs of ribsHP:0000878
  • 2-3 toe syndactylyHP:0004691
  • Abnormal involuntary eye movementsHP:0012547
  • AsthmaHP:0002099
  • AutismHP:0000717
  • Bipolar affective disorderHP:0007302
  • Broad fingerHP:0001500
  • Broad toeHP:0001837
  • Central adrenal insufficiencyHP:0011734
  • ClinodactylyHP:0030084
  • Corneal opacityHP:0007957
  • CryptorchidismHP:0000028
  • Decreased response to growth hormone stimulation testHP:0000824
  • Deeply set eyeHP:0000490
  • Diastasis rectiHP:0001540
  • Eczematoid dermatitisHP:0000964
  • HyperthyroidismHP:0000836
  • Long philtrumHP:0000343
  • Mandibular prognathiaHP:0000303
  • MicrocephalyHP:0000252
  • Neurogenic bladderHP:0000011
  • NystagmusHP:0000639
  • OligohydramniosHP:0001562
  • Prominent metopic ridgeHP:0005487
  • Pulmonic stenosisHP:0001642
  • Sensorineural hearing impairmentHP:0000407
  • Short neckHP:0000470
  • StrabismusHP:0000486
  • SynophrysHP:0000664
  • Upslanted palpebral fissureHP:0000582
  • Wide nasal bridgeHP:0000431