Phenotype #0000051217

Individual ID	00065111
Associated disease	-
Phenotype details	see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cortical visual impairment (HP:0100704), no abnormal hearing (-HP:0100704), osteoporosis (three femur fractures) (HP:0000939), mild virilization of external genitalia as a neonate (subsequently normalized) (HP:?), turricephaly (HP:0000262), Bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), no coarse features (-HP:0000280), no macroglossia (-HP:0000158), gingival hyperplasia (HP:0000212)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	00y25m
Phenotype/Onset	-
Protein	-
Owner name	Jamie Zeegers
Database submission license	No license selected
Created by	Jamie Zeegers
Date created	2016-05-18 14:28:21 +02:00 (CEST)
Date last edited	2016-05-18 17:32:05 +02:00 (CEST)

Global Variome shared LOVD