Phenotype #0000328715

Individual ID 00438817
Associated disease HLD
Diagnosis/Initial hypomyelinating leukodystrophy
Diagnosis/Definite HLD7
Phenotype details hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; bitemporal narrowing; flat midface; smooth philtrum; ptosis, downslanting palpebral fissure, mildly overfoled helixes, prognatism
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 InternationalCreative Commons 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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