Phenotype #0000257149

Individual ID 00361758
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; autistic features; sleep disturbance; seizures; feeding difficulties; strabismus; joint hypermobility; cerebral MRI cerebral atrophy
Inheritance Isolated (sporadic)
Age/Examination 6y1m (6 years, 1 month)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2021-04-09 09:19:14 +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.