Phenotype #0000073656

Individual ID 00095260
Associated disease BAMS
Phenotype details complete arhinia ; bilateral microphthalmia. Coloboma of the iris; midface hypoplasia. High arched palate. Hypertelorism. Absent nasolacrimal ducts; micropenis. Hypogonadotropic hypogonadism; 9y-growth normal; autistic and aggressive behavior. Psychomotor developmental quotient moderately delayed. Needs special education program at school; generalized seizures. Agenesis of the olfactory bulbs
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 13y (13 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 12:44:29 +01:00 (CET)

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