Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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 Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2021-11-11 15:40:53 +01:00 (CET) Date last edited N/A

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