Global Variome shared LOVD

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

Phenotype #0000238101 Individual ID 00311179 Associated disease BBSOAS Phenotype details Maternal diabetes (HP:0009800); Failure to thrive (HP:0001508); Muscular hypotonia (HP:0001252); Hypsarrhythmia (HP:0002521); Infantile spasms (HP:0012469); Abnormality of lateral ventricle (HP:0030047); Cognitive impairment (HP:0100543); Absent speech (HP:0001344); Autistic behavior (HP:0000729) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset 00y01m Phenotype/Onset - Protein - Owner name Benjamin Billiet Database submission license No license selected Created by Benjamin Billiet Date created 2020-10-05 10:54:08 +02:00 (CEST) Date last edited 2021-05-05 16:34:12 +02:00 (CEST)

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