Global Variome shared LOVD

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

Phenotype #0000236679 Individual ID 00311432 Associated disease NDD Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details no perinatal history; mild to moderate developmental delay/intellectual disability; cryptorchidism, pectus excavatum, overlapping 2nd and 3rd toes; normal stature (SD 1.68), normal weight (SD 0.24), OFC normal (SD 1.87); craniofacial dysmorphisms; strabismus, diabetes mellitus, hypermobility Inheritance Isolated (sporadic) Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-09-25 11:13:06 +02:00 (CEST) Date last edited N/A

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