Global Variome shared LOVD

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

Phenotype #0000236430 Individual ID 00311177 Associated disease BBSOAS Phenotype details Delayed ability to walk (HP:0031936); Absent speech (HP:0001344); Poor eye contact (HP:0000817); Reduced visual acuity (HP:0007663); Accommodative esotropia (HP:0020046); Hypermetropia (HP:0000540); Cerebral visual impairment (HP:0100704); Myopathic facies (HP:0002058); Muscular hypotonia (HP:0001252); Persistent head lag (HP:0032988); Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset ? Phenotype/Onset - Protein - Owner name Benjamin Billiet Database submission license No license selected Created by Benjamin Billiet Date created 2020-09-21 11:24:07 +02:00 (CEST) Date last edited 2021-05-07 09:23:21 +02:00 (CEST)

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