Global Variome shared LOVD

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

Phenotype #0000236431 Individual ID 00311178 Associated disease BBSOAS Phenotype details Induced vaginal delivery (HP:0030369); Delayed ability to walk (HP:0031936); Muscular hypotonia (HP:0001252); Frequent falls (HP:0002359); Clumsiness (HP:0002312); Delayed speech and language development (HP:0000750); Delayed fine motor development (HP:0010862); Impaired mastication (HP:0005216); Dysphagia (HP:0002015); Intention tremor (HP:0002080); Reduced visual acuity (HP:0007663); Myopia (HP:0000545); Macrocephaly (HP:0000256) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset ? Phenotype/Onset - Protein - Owner name Benjamin Billiet Database submission license No license selected Created by Benjamin Billiet Date created 2020-09-21 11:33:43 +02:00 (CEST) Date last edited 2021-04-22 08:12:05 +02:00 (CEST)

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