Phenotype #0000231253
| Individual ID |
00305403 |
| Associated disease |
FLHS |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Initial |
Floating-Harbor syndrome |
| Age/Onset |
- |
| Diagnosis/Definite |
FLHS |
| Age/Examination |
28y (28 years) |
| Phenotype details |
birth weight 2.110 kg (P10), length 45 cm (P10-P50), 36w-OFC 32 cm (P50) cm; 28y-weight 35 kg, height 132 cm, OFC 53.5 cm; triangular face; long nose; low hanging; no columella; no short philtrum, no thin upper lip, no wide mouth, no short neck; clinodactyly, cutaneous syndactyly (fingers 2–5); transient gluten intolerance; delayed bone age (6m at 25m, 4y at 7y); hypernasal voice; speech delay, 3y-first word, 4-5y-first sentences, mild intellectual disability; unilateral pseudarthrosis of clavicle and bilateral hypoplastic clavicles, bilateral anterior eye chamber defects, breast asymmetry; 16y-puberty; lipid myopathy, premature ageing, generalized osteopenia, bilateral hypoplasia and occlusion of internal carotid arteries (Moya–Moya‐like) with multiple cerebral infarcts and leukoencephalopathy, 10y-spastic R motor hemisyndrom |
| Age/Diagnosis |
- |
| Birth_Details |
- |
| Phenotype/Onset |
- |
| Height-Weight-OFC |
- |
| Face/Philtrum |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
No license selected |
| Created by |
Johan den Dunnen |
| Date created |
2020-06-25 10:50:08 +02:00 (CEST) |
| Date last edited |
N/A |
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