Global Variome shared LOVD

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Phenotype #0000284208 Individual ID 00390720 Associated disease NDD Diagnosis/Initial PTEN mutation, RASopathy Diagnosis/Definite - Phenotype details no intrauterine growth retardation; short stature (-2.0 SD); developmental delay; relative macrocephaly,; strabismus; high broad forehead, down-slanting palpebral fissures, slightly low-set posteriorly rotated ears; hypoplastic nails (especially digits 3,4 and 5); mildly dysmorphic corpus callosum (curved with thin elongated splenium), delayed myelination Inheritance Familial, autosomal dominant Age/Examination 6y10m (6 years, 10 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-11-11 17:06:31 +01:00 (CET) Date last edited N/A

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