Phenotype #0000284211

Individual ID 00390723
Associated disease NDD
Diagnosis/Initial Fragile X-syndrome
Diagnosis/Definite -
Phenotype details no intrauterine growth retardation (-1.16 SD); no short stature (+0.74 SD); developmental delay; normocephaly; myopia; coarse face, low anterior hairline, thick eyebrows, broad nasal tip, thick vermilion of the lower lip and micrognathia,; joint hypermobility; pas cavus
Inheritance Familial, autosomal dominant
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2021-11-11 17:06:31 +01:00 (CET)
Date last edited N/A

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