Global Variome shared LOVD

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

Phenotype #0000304346 Individual ID 00412341 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details last assessment early childhood; height -0.38 SD, OFC +1.26 SD; no microcephaly; no short stature; delayed walking (>18m, toddler); developmental delay; delayed speech; no seizures/epilepsy; hypotonia; normal joints; normal movement; cortical visual impairment, strabismus; normal hearing; no dysmorphism; no GI dysmotility/feeding problems; behavioral problems; no failure to thrive; no sleeping difficulties; no skeletal abnormalities; MRI brain small benign hygromas of infancy, otherwise normal; 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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