Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000060888 Individual ID 00081323 Associated disease CSS9;MRD27 Phenotype details microcephaly, developmental delay; height 109.4 cm (9th), weight 18.45 kg (9th), OFC 48.2 cm (0.4th); 30m-walk; 36m-speech; poor feeding as neonate, 5th finger clinodactyly, 2–3 toe syndactyly, hypoplasia nail 5th toe, hypermetropia Diagnosis/Initial Coffin-Siris syndrome Diagnosis/Definite CSS9 Inheritance Isolated (sporadic) Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Alisdair McNeill Database submission license No license selected Created by Alisdair McNeill Date created 2016-10-05 17:54:47 +02:00 (CEST) Date last edited 2020-07-25 09:34:40 +02:00 (CEST)

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