Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000230544 Individual ID 00303464 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDAHM Phenotype details intellectual disability; speech few words; normal behaviour; OFC 7y10m 49.7 cm (0.4th); generalized hypertonia predominantly in both lower limbs, easily elicited reflexes, unsteady spastic gait; no gross motor development; MRI brain normal; no facial dysmorphism; mirror movements hand Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-12 19:05:40 +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.