Phenotype #0000268921

Individual ID 00373647
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details see paper; ..., speech 2y-10 words, 3y-short sentence; age walking normal; +; no childhood hypotonia; seizures; neuroimaging normal; no blindness
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-17 13:51:11 +02:00 (CEST)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.