Phenotype #0000306934

Individual ID 00415133
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite DEDBANP
Phenotype details birth weight 4,100g (90th), length 51cm (75th), OFC 36.5cm (75th); 9m-sit; 16m-walk; 36m-first words; developmental delay; mild/moderate intellectual disability; no autism spectrum disorder; no attention-deficit hyperactivity disorder; no hypotonia; no stereotypies; no epilepsy; no sleep disturbance; MRI brain normal; facial dysmorphism; macrocephaly (97th centile); no overweight; no joint hypermobility; learning disabilities
Inheritance Isolated (sporadic)
Age/Examination 08y (8 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 2022-08-08 15:58:51 +02:00 (CEST)
Date last edited 2024-12-10 18:58:36 +01:00 (CET)

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.