Global Variome shared LOVD

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Phenotype #0000231374 Individual ID 00305525 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 38+1w, weight 2590 (normal), OFC 34 (normal); 1d-deceased (respiratory failure)y; facial abnormalities; L ventriculomegaly + persistent ductus botalli; Flat and hypoplastic labia majora; Hepatomegaly, nonspecific, small solid liver lesion (L), echogenic, possible fatty pancreas, possible adrenal mass or hemorrhage R ; Deceased on first day of life due to respiratory failure, small lungs; Artrogryposis, gracile, elongated long bones and multiple fractures. Dislocated hips with deep dimples on lateral aspects; Naevus flammeus (nose/eyelids). Hypertrichosis extremities. Lower leg skin indentation suggestive of cord wrapping. Nails normal.; Small hands, tapered fingers, camptodactyly. Absent palmar creases R, thumb adducted R. 5th finger distal phalanges hypoplastic. Small feet, bilaterally deformed, probable L club foot. Toes small and flexion contractures.; Maternal chlamydia infection GA 10 weeks; MRI-brain no holoprosencephaly, Slight ventriculomegaly Inheritance Isolated (sporadic) Age/Examination 1d 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 2020-06-28 10:52:31 +02:00 (CEST) Date last edited N/A

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