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 InternationalCreative Commons License
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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