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syndromic X-linked intellectual disability Shrimpton type

MeSH: C567474ORPHA: 85324

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has material basis in variation in the chromosomal region Xq12-q21.31

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 syndromic X-linked intellectual disability Shrimpton type, sourced from HPO and Orphanet clinical annotations.

MicrocephalyHigh foreheadStrabismusShort statureSevere intellectual disability

Classification & Codes

MeSH Code

C567474

Orphanet Code

ORPHA:85324
syndromic X-linked intellectual disability Shrimpton type
MeSHC567474
OrphanetORPHA:85324
Treatments0 drug(s)
Symptoms on record5 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
syndromic X-linked intellectual disability Shrimpton type | OrphanDrug