Phenotype #0000144401

Individual ID 00184070
Associated disease ?
Diagnosis/Initial developmental delay
Diagnosis/Definite -
Phenotype details see paper; …; seizures; EEG multifocal discharges; MRI normal; severe axial hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); congenital contractures (HP:0002803); macrocephaly (HP:0000256)
Inheritance Isolated (sporadic)
Age/Examination 2y (2 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2018-10-28 13:05:22 +01:00 (CET)
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.