Global Variome shared LOVD

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Phenotype #0000139241 Individual ID 00174403 Associated disease HRTFDS Phenotype details Holoprosencephaly (HPE) spectrum disorderslobar HPE (Lobar), HP:0001360, HP:0006870; corpus callosum (parzial Agenesia), HP:0001273; ectrodactyly spectrum disorders (Foot/ Right/Left), HP:0100257, HP:0001839; abnormal genitalia (Micropenis, Cryptorchidism), HP:0000811, HP:0000054, HP:0000028; central diabetes insipidus, HP:0000863; developmental delay/intellectual disability (mild), HP:0012758, HP:0001249 Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lucia Micale Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Lucia Micale Date created 2018-08-08 14:28:29 +02:00 (CEST) Date last edited 2018-08-09 12:52:46 +02:00 (CEST)

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