Phenotype #0000237120

Individual ID 00311872
Associated disease RRS
Phenotype details 12d-prominent forehead, flat occiput, micrognathia, prominent eyes, hypertelorism, downslanting palpebral fissures, flat nasal bridge, nuchal edema, congenital pes equinovarus, congenital atrioventricular septal defect, recurrent respiratory infections; deceased
Diagnosis/Initial Robinow syndrome
Inheritance Familial, autosomal dominant
Diagnosis/Definite OPSMD
Age/Examination 00y00m12d (12 days)
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 2020-09-29 16:10:21 +02:00 (CEST)
Date last edited 2020-09-29 19:57:24 +02:00 (CEST)

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