Phenotype #0000301945

Individual ID 00409830
Associated disease NEDVIBA
Diagnosis/Initial -
Diagnosis/Definite neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)
Phenotype details Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: 8m; age at walking: 1y6m; age at talking & current speech:2 years & Speaks in sentences and has word finding difficulties; dysmorphic features: none; neurologic & behavioral problems: ataxia, staring spells, tingling in legs (electromyography normal), hypotonia, will hug and kiss strangers; electroencephalogram: normal; brain magnetic resonance: cystic lesion on brain; visual abnormalities: retinitis pigmentosa, cone-rod dystrophy, optic atrophy, photophobia, slight exotropia, bilateral strabismus; other abnormalities: familial mediterranean fever (heterozygous MEFV mutation), gags easily and sometimes chokes on f
Inheritance Isolated (sporadic)
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-11 15:22:31 +02:00 (CEST)
Date last edited N/A

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