Phenotype #0000078484

Individual ID 00100258
Associated disease PHP1A
Phenotype details vitamin D deficiency (HP:0100512); short stature (HP:0004322); intellectual disability (HP:0001249); obesity (HP:0001513); brachydactyly, type E (HP:0005863); no hypercalcemia (-HP:0003072); hyperphosphatemia (HP:0002905); high circulating parathyroid hormone (HP:0003165), thyroid-stimulating hormone excess (HP:0002925)
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 33y (33 years)
Age/Diagnosis 33y
Age/Onset 05y
Phenotype/Onset primary hypothyroidism
Protein -
Owner name Arrate Pereda
Database submission license No license selected
Created by Arrate Pereda
Date created 2017-02-09 12:09:24 +01:00 (CET)
Date last edited 2021-10-19 15:59:52 +02:00 (CEST)

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