Phenotype #0000304874

Individual ID 00412888
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details severe Intellectual disability; no speech; 14m-walk; epilepsy; EEG frequent interictal epileptiform discharges with spikes/spike over posterior regions; tip-toe walking; self-injurious behavior; MRI brain normal; poor sleep requiring melatonin; left intermittent divergent squint; no dysmorphic features; >6y-precocious puberty; OFC 49cm, weight 31 kg, height 140.5cm
Inheritance Familial, autosomal recessive
Age/Examination 9y6m (9 years, 6 months)
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 2022-07-06 11:59:56 +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.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.