Global Variome shared LOVD

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

Phenotype #0000254799 Individual ID 00302603 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth 37w, BPD 8.8, weight 2.5kg; weight 21kg, present height (cm)cm; 12m-sit, 36m-stand; speech equals 2y3m, 24m-first words; moderate intellectual disability; MRI brain abnormal; cerebral atrophy; no enlarged lateral ventricles; no corpus callosum atrophy; no simplified gyral pattern; no hypotonia; low-set ears, thin upper lip; no microcephaly; no skin anomaly; paranasal sinus volume not increased; no autistic behaviour; aggression; undescended testes; no sleep disturbance; no scoliosis/kyphosis; no seizures Inheritance Familial, autosomal recessive Age/Examination 08y (8 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 2021-03-24 20:03:01 +01:00 (CET) Date last edited N/A

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