Global Variome shared LOVD

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Phenotype #0000073662 Individual ID 00095266 Associated disease BAMS Phenotype details complete arhinia ; bilateral coloboma of the iris; high arched palate. Slight hypertelorism. Absence of paranasal sinuses, nasal bones, cribriform plate and septal structures. Maxillary hypoplasia. Nasolachrymal duct atresia; delayed puberty with low gonadotropins; has been started on estrogen; normal growth; normal psychomotor development; absence of olfactory bulbs and sulci. Fused medial orbital and rectus gyri Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-01-13 12:30:06 +01:00 (CET) Date last edited 2017-01-13 12:52:20 +01:00 (CET)

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