Global Variome shared LOVD

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

Phenotype #0000291059 Individual ID 00397931 Associated disease WABS Diagnosis/Initial Warsaw breakage syndrome Diagnosis/Definite WABS Phenotype details microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; epicanthus; brain abnormalities; short neck; single palmar crease; high-arched palate Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Najim Ameziane Database submission license No license selected Created by Najim Ameziane Date created 2014-12-09 15:58:16 +01:00 (CET) Date last edited 2021-12-29 16:56:55 +01:00 (CET)

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