Global Variome shared LOVD

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

Phenotype #0000023277 Individual ID 00027204 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details Moderate ID; impaired speech; hypotonia; late motor development; ataxia; Hypo/areflexia; Coarse features; Broad/bulbous nose; Thick lower lip vermilions; Brachy/camptodactyly of 5th fingers; Short and broad finger/toes; Elbow motion limitation; Sensineuronal hearing loss; progressive Cerebellar atrophy; Pontine thinning Age/Examination 23y (23 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Marianne Vos (LOVD-team) Date created 2014-12-29 14:55:12 +01:00 (CET) Date last edited 2015-02-20 22:34:45 +01:00 (CET)

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