Global Variome shared LOVD

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

Phenotype #0000254803 Individual ID 00359549 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth 38w, now OFC 31cm, weight 3kg; weight 10kg, height 120cm; not sitting, not standing; no speech yet; severe intellectual disability; MRI brain abnormal; cerebral atrophy; enlarged lateral ventricles; corpus callosum atrophy; simplified gyral pattern; enlarged third ventricle; hypotonia; no facial dysmorphism; microcephaly; wide internipple distance; woolly scalp hair; paranasal sinus volume not increased; no autistic behaviour; no aggression; no genitourinary abnormalities; no sleep disturbance; no scoliosis/kyphosis; no seizures Inheritance Familial, autosomal recessive Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset 00y00m01d Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-03-25 09:37:02 +01:00 (CET) Date last edited 2021-03-25 09:41:25 +01:00 (CET)

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