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 InternationalCreative Commons License
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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