Global Variome shared LOVD

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

Phenotype #0000085481 Individual ID 00107716 Associated disease PHP1A Phenotype details normal stature; moderate intellectual disability (HP:0002342); round face (HP:0000311); brachydactyly (HP:000156); widely spaced teeth (HP:0000687); ectopic ossification (HP:0011986); no hypercalcemia (-HP:0003072); hyperphosphatemia (HP:0002905); high parathyroid hormone, hyperparathyroidism (HP:0000843) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 08y07m (8 years, 7 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Arrate Pereda Database submission license No license selected Created by Arrate Pereda Date created 2017-07-17 14:05:54 +02:00 (CEST) Date last edited 2021-10-19 15:59:52 +02:00 (CEST)

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