Phenotype #0000328730

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00438832
Associated disease	HLD
Diagnosis/Initial	hypomyelinating leukodystrophy
Diagnosis/Definite	HLD11
Phenotype details	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; bulbous tip of the nose; short philtrum; thin upper lip; pointed chin; peri-orbital fullness, low-hanging columella
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
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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