Global Variome shared LOVD

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Phenotype #0000228797 Individual ID 00301699 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details family history of neurological problems. She has born full term to a consanguineous couple. Severe unexplained hypotonia was noted since birth. Examination revealed dolichocephaly, high arched palate, low set years and long tapering fingers. Anterior fontanel was open. She has marked leg, truncal hypotonia and peripheral hypotonia. She has muscle weakness and wasting of the calf muscle, bilateral wrist-drop and claw hand positioning and talipes. MRI brain was normal. One of her siblings died at the age of 6 months in NICU. Inheritance Familial, autosomal recessive Age/Examination 2y6m (2 years, 6 months) Age/Diagnosis - Age/Onset - 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 2020-05-22 17:20:34 +02:00 (CEST) Date last edited N/A

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