Global Variome shared LOVD

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

Phenotype #0000085479 Individual ID 00107714 Associated disease PHP1A Phenotype details short stature (HP:0004322); mild intellectual disability (HP:0001256); delayed puberty (HP:0000823); no dysmorphic face (-HP:0001999); brachydactyly (HP:000156); widely spaced teeth (HP:0000687); no ectopic ossification (-HP:0011986); no calcifications; hypercalcemia (HP:0003072); high parathyroid hormone, hyperparathyroidism (HP:0000843), thyroid-stimulating hormone excess (HP:0002925) Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis 15y08m Age/Onset - Phenotype/Onset - Protein - Owner name Arrate Pereda Database submission license No license selected Created by Arrate Pereda Date created 2017-07-17 13:25:51 +02:00 (CEST) Date last edited 2021-10-19 15:59:52 +02:00 (CEST)

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