Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000304349 Individual ID 00412344 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details last assessment early childhood; height -2.99 SD, OFC -3.59 SD; microcephaly; short stature; walking not yet achieved; intellectual disability; developmental delay; speech not yet achieved; no seizures/epilepsy; hypotonia; dystonic movement disorder; strabismus, corrected during late infancy; normal hearing; distinct features; GERD diagnosed in early childhood, constipation, diet supplemented with formulated meal replacement; no autism spectrum disorder, notably worsening behavior with fever; failure to thrive; sleeping difficulties; no skeletal abnormalities; SGA history in the pregnancy, preterm labor, sensory overload, reactive airway diagnosed as a toddler; MRI brain normal; no cardiac abnormalities Inheritance Isolated (sporadic) Age/Examination - 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 2022-06-27 19:18:04 +02:00 (CEST) Date last edited N/A

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