Global Variome shared LOVD

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Phenotype #0000231815 Individual ID 00305967 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDAMSS Phenotype details see paper; ...; 54y-deceased; normal early developmental milestones.; 6y-bilateral keratoconus requiring corneal transplantation in early adulthood; at school handwriting slow and clumsy; 19y-started walking on toes, mild speech impairment, grasping difficulties, developed progressive gait problems, needed walking aids, 42y-wheelchair-bound; increased eye blinking, repetitive oromandibular grimacing; developed progressively increased muscle tone extremities, unable to speak a few years into the disease; no seizures Inheritance Isolated (sporadic) Age/Examination 54y (54 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 2020-07-06 14:02:23 +02:00 (CEST) Date last edited N/A

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