Global Variome shared LOVD

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Phenotype #0000307205 Individual ID 00415411 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., short stature,OFC –1.95 SD, marked brachycephaly, moderate myopia (–3/–4 diopters), distal joint laxity (Beighton score 4/9), high implantation hair frontal area, nose deviated to right, underdeveloped nasal alae, ears simplified and unfolded, sparse one-third external eyebrows, wide bridge nose, widely spaced eyes, cutaneous syndactyly between III-IV bilateral fingers both hands, cutaneous syndactyly both feet with brachydactyly in IV and V toes;mild/moderate intellectual disability, inability to read or perform simple calculations Inheritance Isolated (sporadic) Age/Examination 15y (15 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 2022-08-13 16:51:01 +02:00 (CEST) Date last edited N/A

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