TBCK-related intellectual disability syndrome
ORPHA: 488632
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with TBCK-related intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Neonatal hypotoniaProgressive muscle weaknessEMG: chronic denervation signsSevere muscular hypotoniaCoarse facial featuresDelayed speech and language developmentSeizureAreflexiaReduced tendon reflexesAbnormal facial shapeHypoplasia of the corpus callosumRespiratory insufficiencyVentriculomegalyGlobal brain atrophyAbnormal periventricular white matter morphologyInability to walkAbnormal circulating lipid concentrationSkeletal muscle atrophySevere global developmental delayMultifocal seizuresMacroglossiaMacrocephalyEpicanthusBroad foreheadSloping foreheadBulbous noseThick eyebrowPectus excavatumHypothyroidismOsteoporosisHirsutismVentricular septal defectHypothermiaDevelopmental regressionScoliosisHigh, narrow palateDelayed skeletal maturationLimb undergrowthTented upper lip vermilionEEG with generalized epileptiform dischargesEMG: myokymic dischargesCognitive impairmentNeurogenic bladderCryptorchidismMicrocephalyMandibular prognathiaLong philtrumSensorineural hearing impairmentWide nasal bridgeShort neckStrabismusDeeply set eyeUpslanted palpebral fissureNystagmusSynophrysAutismDecreased response to growth hormone stimulation testHyperthyroidism11 pairs of ribsEczematoid dermatitisBroad fingerDiastasis rectiOligohydramniosPulmonic stenosisBroad toeAsthma2-3 toe syndactylyProminent metopic ridgeBipolar affective disorderCorneal opacityCentral adrenal insufficiencyAbnormal involuntary eye movementsClinodactyly
Classification & Codes
Orphanet Code
ORPHA:488632TBCK-related intellectual disability syndrome
| Orphanet | ORPHA:488632 |
| Treatments | 0 drug(s) |
| Symptoms on record | 73 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO