Global Variome shared LOVD

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

Phenotype #0000082781 Individual ID 00104889 Associated disease PPHP Diagnosis/Initial - Diagnosis/Definite - Inheritance Unknown Phenotype details short stature (HP:0004322); brain calcification; round face (HP:0000311); normal hormone levels; no hpercalciuria (-HP:0002150); no intellectual disability (-HP:0001249); hyperphosphatemia; no obesity (-HP:0001513); no ectopic ossification (-HP:0011986); Age/Examination 13y03m (13 years, 3 months) Age/Diagnosis 13y03m Age/Onset - Phenotype/Onset - Protein - Owner name Arrate Pereda Database submission license No license selected Created by Arrate Pereda Date created 2017-06-06 12:45:31 +02:00 (CEST) Date last edited 2020-05-06 09:34:37 +02:00 (CEST)

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