Phenotype #0000000785

Individual ID 00001615
Associated disease FLHS
Inheritance Isolated (sporadic)
Diagnosis/Initial -
Age/Onset -
Diagnosis/Definite -
Age/Examination 07y05m (7 years, 5 months)
Phenotype details preputertal height -2.5SD; Bone age of 8m at chronological 2y8m; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion broder; Wide mouth; Low-set ears; Broad thumbs; Broad fingertips; Clinodactyly; Short fifth metacarpal; Unilateral cleft lip; Cryotorchidism; Mild intellectual disability; Moderate delayed development of expressive language; Mainstream education with support; Normal microarry finings (Agilent 244K); delayed bone age; brachydactyly (HP:0000153)
Age/Diagnosis -
Birth_Details paternal age of 35y; 41w; weight 2730 (-1.5)
Phenotype/Onset -
Height-Weight-OFC height 111 (-2.5); weight -1.4; OFC 51.5 (-0.5)
Face/Philtrum short
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-07-11 15:30:14 +02:00 (CEST)
Date last edited 2025-02-03 10:28:40 +01:00 (CET)

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