Global Variome shared LOVD

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Phenotype #0000155335 Individual ID 00207560 Associated disease HLD Diagnosis/Initial hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome Diagnosis/Definite HLD-7 Phenotype details developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 10y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 0y 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 2018-11-24 00:59:31 +01:00 (CET) Date last edited N/A

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