Global Variome shared LOVD

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

Phenotype #0000239769 Individual ID 00316024 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth weight 2700 gr (-1.4 SD), OFC 31.5 cm (-2.9 SD);2y OFC 46cm (-3SD); severe intellectual disability; microcephaly detected during pregnancy; holds head-12m, no sitting, no speech; spastic tetraplegia; MRI brain thin corpus callosum, ventriculomegaly; atrial septum defects, ostium secondum; facial diplegia, retrognathia, bifid uvula, closed hands, adductus thumbs; mild scoliosis, hip dislocation, divergent strabismus Inheritance Familial, autosomal recessive Age/Examination 02y (2 years) 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 2020-11-01 12:39:14 +01:00 (CET) Date last edited 2020-11-01 13:07:11 +01:00 (CET)

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