autism spectrum disorder-epilepsy-arthrogryposis syndrome

ORPHA: 370943

Overview

(1p21)

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 autism spectrum disorder-epilepsy-arthrogryposis syndrome, sourced from HPO and Orphanet clinical annotations.

Autistic behaviorMild intellectual disabilityKnee dislocationHip dysplasiaHammertoeGeneralized non-motor (absence) seizureModerate intellectual disabilityScoliosisHip dislocationSevere intellectual disability

Classification & Codes

Orphanet Code

ORPHA:370943
autism spectrum disorder-epilepsy-arthrogryposis syndrome
OrphanetORPHA:370943
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO