Phenotype #0000024955

Individual ID 00028885
Associated disease MNS
Phenotype details see paper; karyotype 46XX; 15y permanent teeth removed (cavities); prominent eyes, full cheeks, micrognathia, thoracolumbar kyphosis; 40y- weight 55 kg, heigth 157.8 cm, OFC 52 cm, sclerosis skull base, paranasal sinus hypoplasia, short scapulae, irregular clavicles with medial flare, ribbon-like ribs, iliac flare, narrow pelvis, bowing long bones
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination 40y (40 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2015-01-03 12:07:28 +01:00 (CET)
Date last edited N/A

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