Global Variome shared LOVD

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Phenotype #0000300380 Individual ID 00408252 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite CDIDHH Phenotype details see paper; ..., intellectual disability, ataxia with cerebellar hypoplasia, scoliosis, delayed puberty with congenital hypogonadotropic hypogonadism Inheritance Familial, autosomal recessive Age/Examination - 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 2022-04-18 11:56:49 +02:00 (CEST) Date last edited N/A

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