Global Variome shared LOVD

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

Phenotype #0000025534 Individual ID 00029502 Associated disease PHP1A Phenotype details normal stature; no intellectual disability (-HP:0001249); round face (HP:0000311); obesity (HP:0001513); brachydactyly, type E (HP:0005863); ectopic ossification (HP:0011986); hyperphosphatemia (HP:0002905); high circulating parathyroid hormone (HP:0003165), thyroid-stimulating hormone excess (HP:0002925) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 07y (7 years) Age/Diagnosis 07y Age/Onset - Phenotype/Onset - Protein - Owner name Francesca Marta Elli Database submission license No license selected Created by Francesca Marta Elli Date created 2012-05-21 13:39:16 +02:00 (CEST) Date last edited 2021-10-19 15:59:52 +02:00 (CEST)

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