autosomal dominant non-syndromic intellectual disability 18

ORPHA: 363686

Contents

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

Overview

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3

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 autosomal dominant non-syndromic intellectual disability 18, sourced from HPO and Orphanet clinical annotations.

Wide mouthThin upper lip vermilionFacial grimacingShort philtrumBroad foreheadBroad nasal tipHyperopic astigmatismStrabismusHyperactivityGlobal developmental delayGeneralized non-motor (absence) seizureFine hairPoor speechAbnormal cerebral white matter morphologyFloppy infantSevere intellectual disabilityDelayed myelinationLong fingersHypospadiasHigh palateEpicanthusHypertelorismMicrognathiaAstigmatismDeeply set eyeUpslanted palpebral fissureOptic nerve hypoplasiaPeriorbital fullnessLong palpebral fissureAutistic behaviorSelf-mutilationLow frustration toleranceInappropriate laughterJoint hypermobilityIntrauterine growth retardationWidely-spaced maxillary central incisorsFrontal bossingLower limb spasticitySleep disturbanceIncomprehensible speechDepressed nasal bridgeObsessive-compulsive traitBroad distal phalanx of fingerLong toeFeeding difficultiesChronic constipationNarrow palpebral fissureTics

Classification & Codes

Orphanet Code

ORPHA:363686

autosomal dominant non-syndromic intellectual disability 18

Orphanet	`ORPHA:363686`
Treatments	0 drug(s)
Symptoms on record	48 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO