X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

Findings

No curated finding names X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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

• central nervous system malformation
• congenital nervous system disorder
• hereditary neurological disease
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• spondyloepiphyseal dysplasia