Phenotype #0000304344

Individual ID 00412339
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details last assessment middle childhood; height -2.5 SD, OFC -1 SD; no microcephaly; short stature; delayed walking (>18m, early childhood), uses braces; intellectual disability; developmental delay; delayed speech, language ability in the lower-middle range; no seizures/epilepsy; hypotonia; hyperlaxity knees and fingers; normal movement; visual evoked potentials latency with associated cortical visual impairment; normal hearing; no dysmorphism; GERD; no autism spectrum disorder; failure to thrive; no sleeping difficulties; no skeletal abnormalities; MRI brain normal; no cardiac abnormalities
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.