progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
ORPHA: 457212
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 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome, sourced from HPO and Orphanet clinical annotations.
Mandibular prognathiaLong philtrumMacrotiaEmotional labilityAggressive behaviorSelf-mutilationGlobal developmental delayHand tremorPoor speechWaddling gaitHigh, narrow palateSevere intellectual disabilityNarrow palpebral fissureUreteral duplicationThick eyebrowInappropriate laughterHypothyroidismInability to walkMelanomaBreast carcinomaDuplication of renal pelvisEndometrial carcinoma
Classification & Codes
Orphanet Code
ORPHA:457212progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
| Orphanet | ORPHA:457212 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO