Simpson-Golabi-Behmel syndrome type 2

MeSH: C564567ORPHA: 79022

Contents

1. Overview
2. Available Treatments
3. Classification & Codes

Overview

X-linked recessive disease that has material basis in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems

Available Treatments (0)

No treatments linked yet

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

Classification & Codes

MeSH Code

C564567

Orphanet Code

ORPHA:79022

Simpson-Golabi-Behmel syndrome type 2

MeSH	`C564567`
Orphanet	`ORPHA:79022`
Treatments	0 drug(s)
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO