autosomal dominant non-syndromic intellectual disability 35

ORPHA: 457279

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 PPP2R5D on chromosome 6p21.1

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 35, sourced from HPO and Orphanet clinical annotations.

MacrocephalyDelayed speech and language developmentGlobal developmental delayGeneralized hypotoniaNeonatal hypotoniaDelayed ability to walkAbnormality of the eyeAggressive behaviorAutistic behaviorMotor stereotypyLow frustration toleranceAbsent speechAbnormal facial shapeUnsteady gaitModerate intellectual disabilityPoor speechScoliosisSevere intellectual disabilityAbnormal temper tantrumsLong faceTriangular faceLow-set earsStrabismusDownslanted palpebral fissuresAtaxiaAbnormal corpus callosum morphologyAbnormal heart morphologyVentricular septal defectCavum septum pellucidumAbnormal cerebral white matter morphologyShort noseLateral ventricle dilatationProminent foreheadMidface retrusionArachnoid cystSubmucous cleft hard palateHigh palateThin upper lip vermilionWide anterior fontanelDolichocephalyFacial asymmetryLong philtrumAstigmatismAlternating esotropiaSeizureAreflexiaPlagiocephalyCongenital hip dislocationRotary nystagmusAtrial septal defectBicuspid aortic valvePatent foramen ovaleHypoglycemiaFrontal bossingPyloric stenosisChronic diarrheaSupernumerary nippleImpaired masticationCongenital muscular torticollisHypoplastic fifth toenailContracture of the proximal interphalangeal joint of the 4th toe

Classification & Codes

Orphanet Code

ORPHA:457279

autosomal dominant non-syndromic intellectual disability 35

Orphanet	`ORPHA:457279`
Treatments	0 drug(s)
Symptoms on record	61 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO