Phenotype #0000337058

Individual ID 00447862
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite NEDBAF
Phenotype details see paper; ..., ; abnormal tone; severe-profound intellectual disability; MRI brain structural abnormalities; no macro/microcephaly in childhood; seizures; feeding difficulties; bilateral inguinal cryptorchidism; no malignancy
Inheritance Isolated (sporadic)
Age/Examination 17y (17 years)
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 2024-01-29 16:06:49 +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.