Global Variome shared LOVD

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

Phenotype #0000337102 Individual ID 00447910 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite LAMSHF Inheritance Isolated (sporadic) Phenotype details see paper; ..., intellectual disability (IQ50), moderate developmental delay; speech delay, 2y-first word; delayed motor development, 23m-walk; bilateral optic atrophy; anxiety; moderate hypotonia; no seizures; prominent maxilla, midline tongue groove, narrow palate, overcrowded teeth, small lower jar, 2-3 toe syndactylyl bilaterally; thoracic kyphoscoliosis, lumbar lordosis, and pectus carinatum with spinal fusion; non-progressive bilateral optic atrophy, exotropia and moderate myopia; infantile gastro-esophageal reflux with poor feeding, mild mitral regurgitation Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-02-01 12:49:50 +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.