Disease association ontology term - MONDO:0014706 - cutis laxa, autosomal dominant 3

Term summary

ID

MONDO:0014706

Name

cutis laxa, autosomal dominant 3

Ontology or CV name

Disease association

Definition

An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.

Parents

• is_a developmental anomaly of metabolic origin
• is_a autosomal dominant cutis laxa
• is_a P5CS deficiency

Annotation