Global Variome shared LOVD

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

Phenotype #0000242422 Individual ID 00320445 Associated disease BBSOAS Phenotype details Optic atrophy (HP:0000648); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Seizure (HP:0001250); Abnormality of higher mental function (HP:0011446); Abnormal nervous system physiology (HP:0012638); Neurodevelopmental delay (HP:0012758); Neurodevelopmental abnormality (HP:0012759); Abnormality of the optic disc (HP:0012795) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2020-11-30 12:59:57 +01:00 (CET) Date last edited 2021-04-29 10:50:03 +02:00 (CEST)

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