Global Variome shared LOVD

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Phenotype #0000081891 Individual ID 00103959 Associated disease SRS;RSS Diagnosis/Initial SRS Diagnosis/Definite clinical SRS (Netchine Harbison-Score 5/6) Growth/Prenatal small Growth/Postnatal growth retardation (postnatal) Head/Size macrocephaly congenital Asymmetry no asymmetric growth Abdominal/Symptoms feeding problems Phenotype details brachydactyly (HP:000156); clinodactyly (HP:0030084); prominent forehead (HP:0011220) Inheritance Isolated (sporadic) Birth_Details height 32.5cm; weigth 764g Age/Examination - Age/Diagnosis 01y06m Age/Onset - Phenotype/Onset - Protein - Owner name Kaori Yamoto Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Kaori Yamoto Date created 2017-04-26 04:57:18 +02:00 (CEST) Date last edited 2025-02-03 10:58:44 +01:00 (CET)

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