Global Variome shared LOVD

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

Phenotype #0000104132 Individual ID 00131913 Associated disease PPHP Diagnosis/Initial - Diagnosis/Definite - Inheritance Unknown Phenotype details Calcinosis (HP:0003761), subcutaneous calcification (HP:0007618), periarticular calcification (HP:0025477), no hypothyroidism (-HP:0000821), no elevated circulating parathyroid hormone level (-HP:0003165); short stature (HP:0004322); round face (HP:0000311); hypercalcemia; hypophosphatemia; normal onset puberty; Age/Examination - Age/Diagnosis 59y Age/Onset - Phenotype/Onset - Protein - Owner name Nicolas Richard Database submission license Creative Commons Attribution 4.0 International Created by Nicolas Richard Date created 2017-09-29 14:33:27 +02:00 (CEST) Date last edited 2020-05-06 09:34:37 +02:00 (CEST)

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