Global Variome shared LOVD

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

Phenotype #0000295652 Individual ID 00402901 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details no perinatal findings; tented upper lip, prominent cheeks; global developmental delay; anxiety, irritability, aggression; normal growth; OFC normal; hypotonia, ataxia; MRI brain normal; mild myopia with astigmatism, optic cupping; abnormal brain-stem-evoked response auditory; pes planus Inheritance Familial, autosomal recessive Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset 1d 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 2022-02-14 10:40:27 +01:00 (CET) Date last edited N/A

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