Phenotype #0000306929

Individual ID 00415128
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite DEDBANP
Phenotype details birth weight 3,720g (87th), length 52cm (94th), OFC 37cm (98th); 7m-sit; 14m-walk; 12m-first words; developmental delay; mild intellectual disability (IQ 57); no autism spectrum disorder; no attention-deficit hyperactivity disorder; hypotonia; no stereotypies; no epilepsy; sleep disturbance; facial dysmorphism; macrocephaly; overweight; no joint hypermobility; small hands and feet
Inheritance Familial, autosomal dominant
Age/Examination 11y01m (11 years, 1 month)
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 18:57:17 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) 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.