Human Phenotype Ontology 
Grandparent Node:
expandNeurodevelopmental abnormality (HP:0012759)help
Parent Node:
expandDevelopmental stagnation (HP:0007281)help
..Starting node
..expandDevelopmental stagnation at onset of seizures (HP:0006834)help
Term ID: 6834
Name: Developmental stagnation at onset of seizures
Synonym:
Definition: A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.
Comments:
Reference: HP:0006834
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006834HP:0006834Developmental stagnation at onset of seizures0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0006834HP:0006834Developmental stagnation at onset of seizures0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47


Genes (2) :SATB1 ST3GAL5

Diseases (2) :OMIM:619229 OMIM:609056
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.