Global Variome shared LOVD

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

Phenotype #0000034041 Individual ID 00039389 Associated disease CVI Phenotype details birth 39w, weight 3640g; height 118cm (P50), OFC 51,5cm (P40); delayed motor mevelopment; normal language development; intellectual disability; autism; normal muscle tone; no epilepsy; MRI normal; nystagmus; normal hearing; long eyelashes; full nasal tip, long columella; thin upper lip; large ears; joint laxity; fragmented palmar creases, short distal finger and toe phalanges, longitudinally grooved fingernails, fetal finger pads, syndactyly II-III toes, clinodactyly IV-V toes Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite MRD62 Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2015-06-21 21:23:22 +02:00 (CEST) Date last edited 2022-10-13 20:19:50 +02:00 (CEST)

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