Phenotype #0000335775

Individual ID 00446573
Associated disease AOS2
Phenotype details aplasia cutis congenita of the scalp (HP:0007385); hypertelorism (HP:0000316); vitreoretinal abnormalities, congenita (HP:0007773); cutis marmorata (HP:0000965); calcifications of cerebral ventricles
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite AOS2
Age/Examination 17
Age/Diagnosis 01y02m
Age/Onset 00y00m17d
Phenotype/Onset Congenital onset
Protein -
Owner name Maria Elena García Paya
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Maria Elena García Paya
Date created 2024-01-18 09:33:23 +01:00 (CET)
Date last edited 2024-01-20 09:55:15 +01:00 (CET)

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