Phenotype #0000284196

Individual ID	00174068
Associated disease	CSS
Diagnosis/Initial	developmental delay
Diagnosis/Definite	-
Phenotype details	short stature (-2.14 SD); developmental delay; slightly coarse features, tall forehead, hypertelorism, depressed nasal root and short nose, prominent and long philtrum, and thin upper lip; nail hypoplasia of fifth finger and toe nails, small hands with tapering fingers, small feet, single palmar crease; Wide inner and outer cerebrospinal fluid spaces, dorsal vermis hypoplasia, wide cisterna magna (Dandy–Walker formation), thin corpus callosum; Hypotonia, Seizure, inguinal hernia
Inheritance	Familial, autosomal dominant
Age/Examination	7y (7 years)
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