Phenotype #0000155334

Individual ID 00207559
Associated disease HLD
Diagnosis/Initial hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome
Diagnosis/Definite HLD-7
Phenotype details no developmental delay; cognitive regression; ?seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 24y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; nerve biopsy
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset 13y
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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