Global Variome shared LOVD

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

Phenotype #0000298309 Individual ID 00405812 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., developmental delay; delayed speech; seizures, complex febrile seizures (abnormal EEGs); MRI brain progressive macrocephaly (secondary to chronic subdural hematoma and extra-axial fluid); axial hypotonia, appendicular hypertonia; subclinical hypothyroidism; dysmorphic features; congenital heart defect (atrial and ventricular septal defects); undescended testes Inheritance Familial, autosomal recessive Age/Examination 3y (3 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 2022-03-22 19:13:14 +01:00 (CET) Date last edited N/A

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