autosomal dominant non-syndromic intellectual disability 19

ORPHA: 404473

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 CTNNB1 on chromosome 3p22.1

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 19, sourced from HPO and Orphanet clinical annotations.

MicrocephalyIntellectual disabilitySpasticityMotor delayAbnormal facial shapePoor speechAxial hypotoniaAbnormality of the eyeAtypical behaviorDevelopmental regressionPrimary microcephalyThin upper lip vermilionSmooth philtrumLong philtrumUnderdeveloped nasal alaeBroad nasal tipStrabismusHypermetropiaMyopiaAggressive behaviorAutistic behaviorHypoplasia of the corpus callosumVentriculomegalyTethered cordDelayed CNS myelinationSleep disturbanceSyringomyeliaLow hanging columellaAbnormal temper tantrumsSelf-injurious behaviorHearing impairmentSeizure

Classification & Codes

Orphanet Code

ORPHA:404473

autosomal dominant non-syndromic intellectual disability 19

Orphanet	`ORPHA:404473`
Treatments	0 drug(s)
Symptoms on record	32 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO