Global Variome shared LOVD

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Phenotype #0000236427 Individual ID 00311174 Associated disease BBSOAS Phenotype details Abnormal visual fixation (HP:0025404); Feeding difficulties in infancy (HP:0008872); Infantile spasms (HP:0012469); Hypoplasia of the corpus callosum (HP:0002079); Cerebral white matter hypoplasia (HP:0012430); Delayed ability to sit (HP:0025336); Muscular hypotonia (HP:0001252); Esotropia (HP:0000565); Amblyopia (HP:0000646); Global developmental delay (HP:0001263); Cerebral visual impairment (HP:0100704) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset 00y04m Phenotype/Onset - Protein - Owner name Benjamin Billiet Database submission license No license selected Created by Benjamin Billiet Date created 2020-09-21 10:53:54 +02:00 (CEST) Date last edited 2021-05-05 16:34:12 +02:00 (CEST)

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