Global Variome shared LOVD

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

Phenotype #0000143970 Individual ID 00183239 Associated disease RBS Phenotype details bilateral radial ray hypoplasia, absent thumbs, bilateral club feet, knee joints stiffness, craniosynostosis, a large frontal hemangioma, craniofacial dysmorphisms (large alae nasi, small nose with deep nasal bridge, arched palate, micrognathia, simple ears, short neck), bilateral glaucoma, hypotonia, neurodevelopmental delay. Diagnosis/Initial Baller Gerold syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite Roberts syndrome Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Elisa Adele Colombo Database submission license No license selected Created by Elisa Adele Colombo Date created 2018-10-17 14:27:51 +02:00 (CEST) Date last edited 2018-10-21 15:59:52 +02:00 (CEST)

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