Phenotype #0000254895

Individual ID 00359622
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details birth 42w, weight 4040g (70th centile), length 54cm (60th centile), OFC 37cm (74th centile); weight 52.8kg 10y8m (>97th centile), length 138cm 10y8m (95th centile), OFC 53cm 10y 8m (79th centile); mild hypotonia; moderate developmental delay; normal vision; normal hearing; no seizures; synophrys; small eyes; normal nose; normal midface; normal mouth; large earlobes; normal neck; normal skin; short toes; frequent otitis media
Inheritance Isolated (sporadic)
Age/Examination 10y8m (10 years, 8 months)
Age/Diagnosis -
Age/Onset 10y8m
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 2021-04-02 17:28:47 +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.