Global Variome shared LOVD

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

Phenotype #0000093339 Individual ID 00117961 Associated disease PPHP Diagnosis/Initial - Diagnosis/Definite - Inheritance Unknown Phenotype details IUGR; Low birth weight (1600g); supernumerary ribs (13 pairs); hyperactivity; hypoacusia; delayed language acquisition; malar hypoplasia; high-arched palate; thorax asymmetry; pectum excavatum; short stature (HP:0004322); delayed growth (HP:00001510); brachydactyly-E (HP:0005863); broad face; finger short thumb;metacapal short 4rd, metacapal short 5th; thyroid-stimulating hormone excess (HP:0002925); no hpercalciuria (-HP:0002150); mild intellectual disability; no obesity (-HP:0001513); Age/Examination 30y (30 years) Age/Diagnosis 30y Age/Onset 10y 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 2017-09-05 12:41:37 +02:00 (CEST) Date last edited 2020-05-06 09:34:37 +02:00 (CEST)

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