Global Variome shared LOVD

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

Phenotype #0000159268 Individual ID 00210703 Associated disease ? Diagnosis/Initial intellectual disability Diagnosis/Definite - Phenotype details moderate intellectual disability; absence of language; no behavioral abnormalities ; hypotonia; no seizures; no movement disorder; MRI normal; failure to thrive; sucking/feeding difficulty; thin/sparse scalp hair; hypertrichosis; thick eyebrows; long eyelashes; no ptosis; thin upper lip vermilion; 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; hypo-melanotic macula Inheritance Isolated (sporadic) Age/Examination 2y6m (2 years, 6 months) 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 (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.