Global Variome shared LOVD

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Phenotype #0000059674 Individual ID 00080098 Associated disease SRS;RSS Diagnosis/Initial SRS Diagnosis/Definite SRS (Netchine Harbison-Score 4/5) Phenotype details see paper; ..., no prominent forehead (-HP:0011220); congenital macrocephaly (HP:0004488); growth retardation (postnatal); small for gestational age (HP:0001518) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Zeynep Tümer Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2016-09-01 17:30:25 +02:00 (CEST) Date last edited 2026-08-05 16:57:52 +02:00 (CEST)

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