neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities

Findings

No curated finding names neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Congenital onset · Infantile onset · Neonatal onset · Progressive · Childhood onset

HPO, annotations 2026-09-02

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.

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.

Where it sits

A kind of

• Mendelian neurodevelopmental disorder
• spastic quadriplegic cerebral palsy

Resolves to: neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities

Also called

cerebral palsy, spastic quadriplegic, 1cerebral palsy, spastic quadriplegic, type 1infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndromeNEDSWMA