Phenotype #0000054305

Individual ID	00074501
Associated disease	CPSFS1A
Phenotype details	downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), long nasal bridge (HP:?), low-set posteriorly rotated ears (HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), no elbow contractures (-HP:0002987), limited forearm supination (HP:0006394), no hip contractures (-HP:0003273), no knee contractures (-HP:0006380), no popliteal webbing (-HP:0009756), no foot contractures (-HP:0005745), no scoliosis (-HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), short stature (HP:0004322), no vertebral fusion (-HP:0002948), ventricular septal defect (HP:0001629)
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Jamie Zeegers
Database submission license	No license selected
Created by	Jamie Zeegers
Date created	2016-07-05 13:50:47 +02:00 (CEST)
Date last edited	2018-01-19 22:29:00 +01:00 (CET)

Global Variome shared LOVD