Global Variome shared LOVD

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

Phenotype #0000060887 Individual ID 00081322 Associated disease CSS9;MRD27 Phenotype details intellectual disability, microcephaly, absence seizures; height 89.4 cm (0.4th), weight 12.15 kg (0.4th), OFC 46.5 cm (0.4th); 30m-walk, no speech, poor feeding as neonate, autism, 5th finger clinodactyly, hypoplasia nail 5th toe, oculomotor apraxia Diagnosis/Initial Coffin-Siris syndrome Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 12y06m (12 years, 6 months) 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 17:24:38 +02:00 (CEST) Date last edited 2020-07-25 09:30:36 +02:00 (CEST)

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