X-linked intellectual disability, Porteous type

ORPHA: 93945

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

Mild intellectual disabilityGlobal developmental delayNarrow faceLong faceMandibular prognathiaShort philtrumHypoplasia of the maxillaCupped earMacrotiaBulbous noseStrabismusFrontal baldingShort statureDecreased body weight

Classification & Codes

Orphanet Code

ORPHA:93945
X-linked intellectual disability, Porteous type
OrphanetORPHA:93945
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO