Global Variome shared LOVD

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

Phenotype #0000159262 Individual ID 00210697 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details mild developmental delay; speech delay; behavioral abnormalities; spasticity; no seizures; movement disorder; MRI two discrete hyperintens white matter lesions; no failure to thrive; no sucking/feeding difficulty; no thin/sparse scalp hair; no hypertrichosis; no thick eyebrows; no long eyelashes; no ptosis; no thin upper lip vermilion; no thick lower lip vermilion; normal palate; no nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; no scoliosis; no ardiovascular abnormality; no inguinal hernia; no undescended testis; hypo pigmented hair, cafe au lait macules Inheritance Isolated (sporadic) Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-12-28 14:25:32 +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.