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 InternationalCreative Commons License
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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