Phenotype #0000295573

Individual ID 00402813
Associated disease LADD
Phenotype details corneal opacity, anophthalmia, neurodevelopmental delay, hipotonia, abnormality of the pinna, severe hearing impairment, atresia of the external auditory canal, conical tooth, syndactyly, small nail.
Diagnosis/Initial anophthalmia
Inheritance Familial, autosomal dominant
Diagnosis/Definite LADD syndrome
Age/Examination 02y01m (2 years, 1 month)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset anophthalmia (HPO:0000528)
Protein -
Owner name Miriam Erandi Reyna-Fabián
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Miriam Erandi Reyna-Fabián
Date created 2022-02-10 23:39:22 +01:00 (CET)
Date last edited 2022-02-16 11:08:56 +01:00 (CET)

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