Phenotype #0000254907

Individual ID 00359634
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details length 152 cm 11y (+2.0 SD), OFC 51 cm 10y (-1.5 SD); no facial dysmorphisms; 14m-walk, normal ambulation; 3y-first words, 13y-profound speech problems; 10y-read and write with difficulties; normal vision; noral hearing; mild intellectual disability; no seizures; 3y-EEG-normal
Inheritance Isolated (sporadic)
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset 2y6m
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 2021-04-03 15:08:35 +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.