Phenotype #0000073650

Individual ID	00095254
Associated disease	BAMS
Phenotype details	complete arhinia; microcorneas and corneal opacities, Deformed pupils, Globulous cataract (bilateral), Ectopic lens (R), Ectopic pupil (L), Primitive vitreous persistence (R), Bilateral microphthalmia, Bilateral esotropia, Limited visual acuity, Hypoplasia of the optic nerves; Hypertelorism, Absence of the nasal cavity, nasal bones and of cartilaginous nasal structures, Agenesis of the maxillary, frontal, sphenoidal and ethmoidal sinuses, Hypoplasia of the ethmoid and maxilla, Preauricular sinus (R); normal reproductive system; normal growth; normal psychomotor development; absence of olfactory bulbs and sulci
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	05y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-01-13 12:30:06 +01:00 (CET)
Date last edited	2017-01-13 12:34:21 +01:00 (CET)

Global Variome shared LOVD