Phenotype #0000000753

Individual ID 00001581
Associated disease FLHS
Inheritance Isolated (sporadic)
Diagnosis/Initial -
Age/Onset -
Diagnosis/Definite -
Age/Examination 04y03m (4 years, 3 months)
Phenotype details OFC 4y3m of 48.5cm/-1.7SD; Weight at 4y3m of 11kg/-3.4SD; Height at 4y3m of 86.5cm/-4.3SD; Prepubertal height -4.4SD; Bone age of 1y at chronological age of 2y11m; Triangular face; Distinctive nose; Low-hanging columella; borderline wide mouth; Low-set ears; Broad thumbs; Clinodactyly; Short fifth metacarpal; Hyperopia; Normal intellectual development; Borderline normal development of expressive language (bilingual); mainstream education; 7q31dup (paternally inherited);; delayed bone age
Age/Diagnosis -
Birth_Details paternal age 39y; 39w; weight 2515 (-2.2)
Phenotype/Onset -
Height-Weight-OFC weight -3.4
Face/Philtrum short
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-07-07 17:41:09 +02:00 (CEST)
Date last edited 2025-02-03 10:18:24 +01:00 (CET)

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