Global Variome shared LOVD

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Phenotype #0000319011 Individual ID 00428065 Associated disease NDD Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite - Phenotype details brith 38w, weight 3,160 g, length 53 cm, OFC 33.5 cm; absent speech; +, severe, does not sit; delayed fine motor milestones; severe neurodegenerative disease since infancy, severe intellectual disability, no IQ measurable; 1y-myoclonic seizures; no autism; hypotonia; MRI brain small anterior commissure, subtle interdigitation of interomedial frontal gyri, rotated small cerebellar hemispheres rotated small vermis, small pons, medulla and middle cerebellar peduncles, small rounded hippocampi, plagiocephaly, progressive mild cerebral volume loss, slightly small optic chiasm and tracts, increasing size of cisterna magna; no behavior abnormalities; early failure to thrive; feeding problems, G-tube; dysmotility, difficulty swallowing, constipation; hypoventilation; 1y-visual impairment (suspected first at 4m); bilateral deafness, deaf aid; no dysmorphic features; no congenital anomalies Inheritance Familial, autosomal recessive Age/Examination 11y (11 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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