syndromic X-linked intellectual disability 17

ORPHA: 289483

Contents

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

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 syndromic X-linked intellectual disability 17, sourced from HPO and Orphanet clinical annotations.

AlacrimaIntellectual disabilityGlobal developmental delayMotor delayAbsent speechDelayed early-childhood social milestone developmentStrabismusAchalasiaAnisocoriaPreauricular skin tagAggressive behaviorEnuresisDeep philtrumDysphagiaVentriculomegaly

Classification & Codes

Orphanet Code

ORPHA:289483

syndromic X-linked intellectual disability 17

Orphanet	`ORPHA:289483`
Treatments	0 drug(s)
Symptoms on record	15 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO