Phenotype #0000341666

Individual ID 00453022
Associated disease KLEFS
Intellectual_dis -
Diagnosis/Initial Kleefstra syndrome phenotypic spectrum
Phenotype details imild ntellectual disability, IS63; language and motor delay; behavior problems,autism, sleeping disorder; no childhood hypotonia; no epilepsy; no scoliosis/kyphosis; recurrent respiratory infections; dry skin; hoarse voice; brain MRI non-progressive enlarged extracerebral space
Diagnosis/Definite KLEFS2
Inheritance Isolated (sporadic)
Age/Examination 7y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details -
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 2024-08-14 11:08:45 +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.