Global Variome shared LOVD

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Phenotype #0000092453 Individual ID 00117207 Associated disease SRS;RSS Diagnosis/Initial - Diagnosis/Definite clinical SRS (Netchine Harbison-Score 5/6) Phenotype details prominent forehead (HP:0011220); feeding problems (HP:0011968); no asymmetric growth (-HP:0100555); congenital macrocephaly (HP:0004488); growth retardation (postnatal); small for gestational age (HP:0001518) Inheritance Isolated (sporadic) 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 13:51:41 +02:00 (CEST) Date last edited 2026-08-05 16:57:52 +02:00 (CEST)

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