Phenotype #0000304343

Individual ID 00412338
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details last assessment middle childhood; height +0.95 SD, OFC +0.49 SD; no microcephaly; no short stature; delayed walking (>18m, early childhood); no intellectual disability; developmental delay; delayed speech, first used words in early childhood; no seizures/epilepsy; hypotonia; normal joints; dystonia; supranuclear gaze palsy with abnormal conjugate movements; normal hearing; dysmorphism; no GI dysmotility/feeding problems; no autism spectrum disorder, ADHD, concerns for anxiety; no failure to thrive; no sleeping difficulties; no skeletal abnormalities; MRI brain normal;
Inheritance Isolated (sporadic)
Age/Examination -
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 2022-06-27 19:18:04 +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.