Phenotype #0000000784

Individual ID 00001614
Associated disease FLHS
Inheritance Isolated (sporadic)
Diagnosis/Initial -
Age/Onset -
Diagnosis/Definite -
Age/Examination 11y (11 years)
Phenotype details age at puberty of 10y; Prepubertal height -3SD; Bone age of 10y 6m at chronological age of 11y4m; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ears; Broad thumbs; Broad fingertips; Clinodactyly; Short first metacarpal; Caries; Microdontia; Underbite; Bilateral epididymal cysts; Left varicocele; Borderline normal intellectual development; Moderate delayed development of expressive language; Special education; Normal microarray findings (Agilent 6.1); delayed bone age; brachydactyly (HP:0000153)
Age/Diagnosis -
Birth_Details paternal age 40y; 40w; weight 2800g (-1.1)
Phenotype/Onset -
Height-Weight-OFC height 139 (-0.6); weight 35 (0); OFC 53 (0)
Face/Philtrum normal
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-07-11 04:27:38 +02:00 (CEST)
Date last edited 2025-02-03 10:28:40 +01:00 (CET)

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