Global Variome shared LOVD

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Phenotype #0000081882 Individual ID 00103954 Associated disease PHP1A Phenotype details short stature (HP:0004322); no growth abnormality (-HP:0001507); no intellectual disability (-HP:0001249); round face (HP:0000311); obesity (HP:0001513); brachydactyly (HP:000156); ectopic ossification (HP:0011986); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); high parathyroid hormone, hyperparathyroidism (HP:0000843), 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 Arrate Pereda Database submission license No license selected Created by Arrate Pereda Date created 2017-04-24 12:13:57 +02:00 (CEST) Date last edited 2021-10-19 15:59:52 +02:00 (CEST)

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