Global Variome shared LOVD

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Phenotype #0000252762 Individual ID 00335047 Associated disease HPE Phenotype details (+) Epicanthus,(+) Abnormality of the forehead,(+) Hypertelorism,(+) Sloping forehead,(+) Long philtrum,(+) Abnormal eyelid morphology,(+) Synophrys,(+) Delayed speech and language development,(+) Global developmental delay,(+) Motor delay,(+) Hoarse voice,(+) Short toe,(+) Disproportionate short stature,(+) Short stature,(+) Short finger,(+) Abnormality of dental structure,(+) Short digit,(+) Cognitive impairment Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-03-03 11:11:26 +01:00 (CET) Date last edited 2021-03-03 12:24:42 +01:00 (CET)

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