Disease association ontology term - MONDO:0010278 - Christianson syndrome

Term summary

ID

MONDO:0010278

Name

Christianson syndrome

Ontology or CV name

Disease association

Definition

A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

Parents

• excluded_subClassOf multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• excluded_subClassOf X-linked cerebellar ataxia
• excluded_subClassOf X-linked syndromic intellectual disability
• is_a syndromic disease
• is_a hereditary disease

Annotation