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) Phenotype details birth height 32.5cm, weigth 764g; brachydactyly (HP:000156); clinodactyly (HP:0030084); 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 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 2026-08-10 13:33:28 +02:00 (CEST)

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