X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome

ORPHA: 83648

Overview

gene, known to be involved in oral-facial-digital syndrome

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

Orphanet Code

ORPHA:83648
X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
OrphanetORPHA:83648
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO