PUM1-associated developmental disability, ataxia, seizure syndrome

Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder)

active

Code	`1260097007`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20221231

Synonyms

PADDAS syndrome
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
SCA47 - spinocerebellar ataxia type 47

Parents (5)

11164009Autosomal dominant hereditary disorder disorder
363070008Developmental hereditary disorder disorder
1362108000Genetic intellectual disability disorder
1137472008Neurodevelopmental delay disorder
129609000Spinocerebellar ataxia disorder

Children (0)

None (leaf concept).