Global Variome shared LOVD

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

Phenotype #0000338888 Individual ID 00449718 Associated disease CRS Phenotype details true hypotelorism, severe microcephaly, residual retrognathia, high arched palate with bifid uvula, dental crowding, mild scoliosis and generalized joint hypermobility with Beighton score 6/9, cleft palate Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite microcephaly, developmental delay and skeletal anomalies (MISA syndrome) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Carmela Fusco Database submission license No license selected Created by Carmela Fusco Date created 2024-05-03 14:44:21 +02:00 (CEST) Date last edited 2024-06-27 17:05:15 +02:00 (CEST)

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