Global Variome shared LOVD

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Phenotype #0000242262 Individual ID 00320216 Associated disease MRXSSB Phenotype details (+) Narrow face,(+) Global developmental delay,(+) Abnormal facial shape,(+) Poor coordination,(+) Mild microcephaly; one-year-old female child, possibly Angelman syndrome, linguistically accentuated developmental delay, broad-based gait pattern, facial dysmorphia (long philtrum, anteverted nostrils, long narrow face), relative microcephaly Diagnosis/Initial 1y Inheritance Unknown Diagnosis/Definite - Age/Examination - 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 2020-11-24 13:29:26 +01:00 (CET) Date last edited 2020-11-24 14:00:51 +01:00 (CET)

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