Global Variome shared LOVD

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Phenotype #0000092450 Individual ID 00117204 Associated disease SRS;RSS Diagnosis/Initial SRS Diagnosis/Definite clinical SRS (Netchine Harbison-Score 5/6) Growth/Prenatal small Growth/Postnatal growth retardation (postnatal) Phenotype details prominent forehead (HP:0011220); feeding problems (HP:0011968); no asymmetric growth (-HP:0100555); congenital macrocephaly (HP:0004488) Inheritance Familial Birth_Details - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Zeynep Tümer Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-08-14 13:42:22 +02:00 (CEST) Date last edited 2026-06-26 15:03:23 +02:00 (CEST)

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