Phenotype #0000058364

Individual ID	00078596
Associated disease	FMD1
Phenotype details	supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), cleft palate (HP:0000175), bifid uvula (HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), no scoliosis (-HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), no cervical vertebral fusion (-HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500)
Diagnosis/Initial	-
Inheritance	Familial, X-linked recessive
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	2016-07-21 12:00:30 +02:00 (CEST)
Date last edited	2017-11-17 22:00:15 +01:00 (CET)

Global Variome shared LOVD