severe intellectual disability-progressive spastic diplegia syndrome

MONDO:0014035Mondo

Findings

No curated finding names severe intellectual disability-progressive spastic diplegia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.

Definition from the Mondo Disease Ontology (MONDO:0014035), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal dominant inheritance
Onset and course: Infantile onset · Neonatal onset

Features

47 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Broad nasal tipHPOHP:0000455
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
Primary microcephalyHPOHP:0011451
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

CTNNB1HGNC:2514
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Ambry Genetics · Autosomal dominant · 2016
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Unknown · 2021

Where it sits

A kind of: autosomal dominant syndromic intellectual disability
congenital nervous system disorder
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy
multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Other names

6 names

Resolves to: severe intellectual disability-progressive spastic diplegia syndrome

Also called: autosomal dominant intellectual disability 19CTNNB1 syndromeintellectual disability, autosomal dominant type 19mental retardation, autosomal dominant type 19MRD19neurodevelopmental disorder with spastic diplegia and visual defects