Phenotype #0000073655

Individual ID 00095259
Associated disease BAMS
Phenotype details complete arhinia ; chronic epiphora. Cataract (R); facial asymmetry. Mid-face hypoplasia; micropenis. Bilateral undescended testes. Low gonadatropins; has been started on testosterone supplements; height delayed. Weight and OFC normal; learning difficulties; transaminitis associated with hypoalbuminaemia and peripheral oedema, with diffuse echogenic liver consistent with fatty infiltration. Bronchiectasis, fixed flexion contractures hip/knees
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 14y (14 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 12:43:08 +01:00 (CET)

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