Global Variome shared LOVD

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Phenotype #0000280747 Individual ID 00386949 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., height 95 cm (3%ile), OFC 44 cm(-8 SD); severe intellectual disability (HP:0010864); microcephaly; seizure; short temper, aggressive; strabismus; narrow nasal base, broad nasal ridge; long philtrum and thin upper lip; normal ear shape; no vestibular deficit Age/Examination 05y (5 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 2021-10-28 09:05:05 +02:00 (CEST) Date last edited N/A

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