THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
ORPHA: 363444
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 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormality of the dentitionHigh foreheadDeeply set eyeDelayed speech and language developmentAbnormal facial shapeLong noseLow hanging columellaMild microcephalyRecurrent urinary tract infectionsAbnormality of the genitourinary systemRetrognathiaEpicanthusSmooth philtrumCarious teethGlobal developmental delayAbnormal heart morphologyVentriculomegalyDysplastic corpus callosumSevere intellectual disabilityAbnormal brain morphologyHypospadiasMicropenisAbnormality of the kidneyHorseshoe kidneyUnilateral renal agenesisThick upper lip vermilionVelopharyngeal insufficiencyPointed chinBroad foreheadHearing impairmentDental malocclusionSpecific learning disabilityAtrial septal defectPatent ductus arteriosusOverlapping toeAnal atresiaPremature ovarian insufficiencyHigh anterior hairlineThin lower lip vermilionMuscular ventricular septal defectPerimembranous ventricular septal defectLeft-to-right shuntCamptodactylyEndometriosis
Classification & Codes
Orphanet Code
ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
| Orphanet | ORPHA:363444 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO