Individual ID |
00001580 |
Associated disease |
FLHS |
Inheritance |
Isolated (sporadic) |
Diagnosis/Initial |
- |
Age/Onset |
- |
Diagnosis/Definite |
- |
Age/Examination |
11y (11 years) |
Phenotype details |
bone age of 2y at chronological age of 4y8m; Bone age of 9y at chronological age of 10y8m; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ears; Broad thumbs; Broad fingertips; Clinodactyly; Caries; Microdontia; Cryptorchidism; Hyperopia; Conductive hearing loss; Borderline normal intellectual development; Impaired development of expressive language; Attend special school; Normal microarray findings (105K); delayed bone age; brachydactyly (HP:0000153) |
Age/Diagnosis |
- |
Birth_Details |
35w; paternal age 35y; weight of 2620g (-0.5) |
Phenotype/Onset |
- |
Height-Weight-OFC |
height 122 (-3.1); weight -3.2; OFC 53.5 (0) |
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 16:54:10 +02:00 (CEST) |
Date last edited |
2025-02-03 10:28:40 +01:00 (CET) |