Global Variome shared LOVD

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Phenotype #0000116451 Individual ID 00143690 Associated disease PPHP Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details short stature (HP:0004322) (<3rd centile); brachydactyly-E (HP:0005863); no calcification; metacapal short 3rd;metacapal short 4rd, metacapal short 5th; normal hormone levels; no hpercalciuria (-HP:0002150); borderline intellectual disability; no obesity (-HP:0001513); no ectopic ossification (-HP:0011986); normal vitamins Age/Examination 17y (17 years) Age/Diagnosis 17y Age/Onset - Phenotype/Onset - Protein - Owner name Arrate Pereda Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Guiomar Perez de Nanclares Date created 2017-12-04 12:30:46 +01:00 (CET) Date last edited 2020-05-06 09:34:37 +02:00 (CEST)

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