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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