Global Variome shared LOVD

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

Phenotype #0000081314 Individual ID 00103230 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details at birth pronounced hypotonia, short neck, genital hypoplasia with underdeveloped labia majora, facial dysmorphism incl. bilateral epicanthus, narrow palpebral fissures, broad nasal bridge with small nose and bulbous tip, small mouth with downturned corners, long philtrum, small protruding cupped ears; er time ovmotor milestones and language acquisition delayed, persisting hypotonia, developed borderline mental retardation (total IQ72 [WISC-R]), ... Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 00y00m01d 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 2017-04-11 20:05:56 +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.