Phenotype #0000338983

Individual ID 00449836
Associated disease ?
Diagnosis/Initial overgrowth
Diagnosis/Definite XLID93
Phenotype details see paper; ..., birth weight >97th, height 97th, OFC >97th, walk-18m; overweight (BMI 43.3), height >99th, OFC >99th; speech delay; intellectual disability; shyness, quick-tempered behavior; high forehead, deep-set eyes, hypertelorism, short palpebral fissures, anteverted nares, downturned corners of the mouth, pointed chin, underfolded helix; broad hands/feet; delayed puberty; muscular hypotonia; joint laxity, genu valgum, pes planus, scoliosis
Inheritance Isolated (sporadic)
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2024-05-16 17:02:40 +02:00 (CEST)
Date last edited N/A

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