Global Variome shared LOVD

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Phenotype #0000233354 Individual ID 00307931 Associated disease ID Diagnosis/Initial intellectual diability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global developmental delay; hypotonia; abnormal facial shape; hypotonia; hip dysplasia; failure to thrive; intrauterine growth retardation; enlarged cisterna magna; polycythemia; coarse facial features; hypertrichosis; thick eyebrow; upslanted palpebral fissure; high forehead; strabismus; prominent nose; thin vermilion border; prominent nasal tip; high, narrow palate; arachnodactyly; pectus excavatum; generalized amyotrophy; overlapping toe; osteopenia; 11 pairs of ribs Age/Examination 2y4m (2 years, 4 months) 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 2020-08-23 12:07:39 +02:00 (CEST) Date last edited N/A

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