Global Variome shared LOVD

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Phenotype #0000117207 Individual ID 00144440 Associated disease PPHP Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Phenotype details growth delay (HP:0001510); short stature (HP:0004322) (<3rd centile); delayed growth (HP:00001510); no nasal bridge; normal teeth; brachydactyly-E (HP:0005863); normal skin; no calcification; normal face; metacapal short 3rd;metacapal short 4rd, metacapal short 5th; normal hormone levels; no hpercalciuria (-HP:0002150); no intellectual disability (-HP:0001249); decreased body weight (HP:0004325); Age/Examination 11y04m (11 years, 4 months) Age/Diagnosis 11y04m Age/Onset - Phenotype/Onset growth delay (HP:0001510) Protein - Owner name Arrate Pereda Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Guiomar Perez de Nanclares Date created 2017-12-14 13:26:33 +01:00 (CET) Date last edited 2020-05-06 09:34:37 +02:00 (CEST)

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