Global Variome shared LOVD

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Phenotype #0000328718 Individual ID 00438820 Associated disease HLD Diagnosis/Initial hypomyelinating leukodystrophy Diagnosis/Definite HLD8 Phenotype details hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; long palpebral fissures; flat midface; short philtrum; smooth philtrum; thin upper lip; full lower lip; short chin; broad and flat nasal bridge 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 2023-10-24 17:26:11 +02:00 (CEST) Date last edited N/A

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