Phenotype #0000231252

Individual ID	00000205
Associated disease	FLHS
Inheritance	Isolated (sporadic)
Diagnosis/Initial	Floating-Harbor syndrome
Age/Onset	-
Diagnosis/Definite	FLHS
Age/Examination	32y (32 years)
Phenotype details	birth weight 2420 kg, length 46 cm, OFC 33 cm; 32y-weight 45 kg, height 144 cm, OFC 56 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; no clinodactyly; digestive abnormalities; delayed bone age; hypernasal voice (pharyngoplasty surgery); speech delay; hypertrophic genital labia, right hip osteochondritis, abnormal retina (‘salt and pepper’ without visual impairment); 13y-puberty (medical slow down of puberty for height gain purpose)
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 10:33:55 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD