Phenotype #0000284197

Individual ID	00174069
Associated disease	CSS
Diagnosis/Initial	developmental delay
Diagnosis/Definite	-
Phenotype details	no intrauterine growth retardation; short stature (-2.2 SD); developmental delay; difficulties tracking moving target with jerky eye movements, repeated loss of fixation; slightly coarse features, midface hypoplasia, normal spacing of eyes, horizontal palpebral fissures, small, upturned nose, Cupid’s bow, full lower lip; tapering fingers, small nails, bilateral clinodactyly 5th finger; Mild hypotonia, umbilical hernia
Inheritance	Familial, autosomal dominant
Age/Examination	22m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-11-11 15:40:53 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD