Global Variome shared LOVD

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Phenotype #0000321080 Individual ID 00430270 Associated disease CDLS4 Phenotype details Neurodevelopmental delay, Butterfly vertebrae, Microcephaly, Single transverse palmar crease, Sandal gap, Patent foramen ovale, Patent ductus arteriosus, Abnormal hip joint morphology, Feeding difficulties in infancy, Choanal atresia, Upslanted palpebral fissure, Low-set, posteriorly rotated ears; mild prenatal growth retardation, microcephaly, intellectual disability, abnormal ear Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 00y06m (6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Head/Size microcephaly Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2023-01-16 17:08:15 +01:00 (CET) Date last edited 2023-03-03 15:05:06 +01:00 (CET)

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