Log In|Sign Up
ENKoolen-De Vries Syndrome Due to a Point Mutation
Favorite
Koolen-De Vries Syndrome Due to a Point Mutation An important gene associated with Koolen-De Vries Syndrome Due to a Point Mutation is KANSL1 (KAT8 Regulatory NSL Complex Subunit 1). Affiliated tissues include bone and pineal, and related phenotypes are hypotonia and global developmental delay
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
