Global Variome shared LOVD

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Phenotype #0000319016 Individual ID 00428070 Associated disease NDD Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite - Phenotype details brith 38w6/7, weight 2,435 g (3.81%ile), length 45.7 cm (5.6%ile), OFC 34.3 cm (22.42%ile); delayed speech development; delayed gross motor development; delayed fine motor milestones; global developmental delay; no seizures; autism; history of hypotonia, now possible hypertonia; MRI brain scattered foci of bifrontal subcortical and hazy periatrial signal abnormality, nonspecific, possible sequela of prior injury; head banging, repetitive motions; no failure to thrive; gastroesophageal reflux, history of NG after birth; no dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; macrocephaly, hx sagittal craniosynostosis s/p repair; congenital sagittal craniosynostosis s/p repair; sialorrhea Inheritance Isolated (sporadic) Age/Examination 3y (3 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 2022-12-21 10:47:09 +01:00 (CET) Date last edited N/A

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