Phenotype #0000345714

Individual ID	00457221
Associated disease	EDSCLL2
Diagnosis/Initial	Ehlers-Danlos syndrome
Diagnosis/Definite	EDSCLL2
Phenotype details	Congenital bilateral hip dislocation (HP:0008780); varicose veins (HP:0002619), short stature (HP:0004322); increased muscle fatiguability (HP:0003750); hyperextensible skin (HP:0000974); bruising susceptibility (HP:0000978); generalized joint hypermobility (HP:0002761); limb pain (HP:0009763); dry hair (HP:0011359); sparse scalp hair (HP:0002209); brittle scalp hair (HP:0004779); narrow face (HP:0000275); narrow nasal bridge (HP:0000446); thin skin (HP:0000963); cigarette-paper scars (HP:0001073); keloids (HP:0010562); increased laxity of fingers (HP:0006149); pes planus (HP:0001763); herniation of intervertebral nuclei (HP:0008441);
Inheritance	Familial, autosomal recessive
Age/Examination	16y (16 years)
Age/Diagnosis	16y
Age/Onset	00y
Phenotype/Onset	Congenital bilateral hip dislocation (HP:0008780)
Owner name	Deepak Subramanian
Database submission license
Created by	Deepak Subramanian
Date created	2024-11-02 13:02:35 +01:00 (CET)
Date last edited	2024-11-04 11:51:28 +01:00 (CET)

Global Variome shared LOVD