Global Variome shared LOVD

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Phenotype #0000343467 Individual ID 00454860 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., intra-uterine growth retardation; short stature; microcephaly, congenital; global developmental delay (nonverbal expressive language with better receptive skills); 2y-walk; speech few words (2y-said "hi", but not consistent or repeated often, currently makes consonent sounds, but using them specifically, working with speech therapist); no behavioral issues; Challenges with differentiating between gentle and hard, thus has some hitting but not violent. Can be stubborn and strong willed.; hypotonia; seizures; MRI brain abnormal, heterotopias. Periventricular leukomalacia. Thin corpus callosum. Absent pituitary bright spot. Inheritance Isolated (sporadic) Age/Examination 4y6m (4 years, 6 months) 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 2024-09-30 10:26:47 +02:00 (CEST) Date last edited N/A

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