Global Variome shared LOVD

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Phenotype #0000073658 Individual ID 00095262 Associated disease BAMS Phenotype details complete arhinia; eyes normal; telecanthus. Downward slant palpebral fissure. Midface hypoplasia. Obstruction of nasolacrimal passage. Absence of nasal cavity, nasal bone and anterior soft tissue. High arched palate. Paramedian notch of the upper lip (bilateral). Nonpneumatization of the maxillary, sphenoid and ethmoid sinuses; slim penis; normal growth; normal psychomotor development; bilateral olfactory bulb agenesis Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 03y (3 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 12:47:17 +01:00 (CET)

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