Global Variome shared LOVD

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Phenotype #0000337314 Individual ID 00448122 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; normal deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; autistic behaviour; MRI brain hypomyelination, cortical gyral semplification, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, no macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin, no keratosis pilaris; normal vision; no strabismus; scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; tapered fingers; pes planus; dysphagia Inheritance Familial, autosomal recessive Age/Examination 9y (9 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 2024-02-15 19:21:32 +01:00 (CET) Date last edited N/A

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