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