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) |