Phenotype #0000000770

Individual ID 00001598
Associated disease FLHS
Inheritance Isolated (sporadic)
Diagnosis/Initial -
Age/Onset -
Diagnosis/Definite -
Age/Examination 03y03m (3 years, 3 months)
Phenotype details OFC 04y of 48cm/-2SD; Height at 4y of 89.9cm/-3.2SD; Prepubertal height -3.2SD; Bone age of 1y at Chronological age of 3y; Distinctive nose; Low-hanging columella; Wide mouth; Broad thumbs; Brachydactyly of fifth toes; Atrial septal defect; Hyperopia; unilateral renal pelviectasis; Moderate delayed intellectual development; Moderate delayed devolopment of expressive language; Xp22.31dup (maternally inherited); delayed bone age
Age/Diagnosis -
Birth_Details paternal age 32y; 40w; weight 2555 (-1.8)
Phenotype/Onset -
Height-Weight-OFC weight -2.5
Face/Philtrum short
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-07-09 03:05:11 +02:00 (CEST)
Date last edited 2025-02-03 10:18:24 +01:00 (CET)

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