Global Variome shared LOVD

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

Phenotype #0000074306 Individual ID 00096030 Associated disease ? Diagnosis/Initial - Diagnosis/Definite WSKA Phenotype details see paper; ..., birth weight 3.2 kg (36%ile), height 32 cm (2%ile); height 82.5 cm (34%ile), OFC 46 cm (12%ile); developmental delay, autism spectrum disorder; hypotonia; lambdoid synostosis, metopic ridge; corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; no arched eyebrows; epicanthal folds; short upturned nose with bulbous tip; no marked cupid bow/wide philtrum; transposition great arteries; silent aspirations on swallow exam Inheritance Isolated (sporadic) Age/Examination 00y19m (19 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Karin Weiss Database submission license No license selected Created by Karin Weiss Date created 2017-01-27 22:46:36 +01:00 (CET) Date last edited 2024-02-07 19:57:14 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.