Global Variome shared LOVD

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

Phenotype #0000321940 Individual ID 00431340 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., microcephaly; short stature; severe developmental delay; 1y-sit; 5y-walk; 6y-first words, 19y-no sentences; school special education; primary puberty, secondary amenorrhea; severe intellectual disability; dysmorphism; no hypotonia; spasticity, hypertonia; waddling gait; self mutilation (biting, hitting head); no seizures; abdominal ultrasound normal; scoliosis, delayed bone age 8-9y; primary and secondary amenorrhea; strabismus Inheritance Familial, autosomal recessive Age/Examination 19y (19 years) 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 2023-02-09 10:08:23 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.