Global Variome shared LOVD

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Phenotype #0000337330 Individual ID 00443474 Associated disease ? Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details delayed motor milestones; profpound neurodevelopmental impairment; tetraparesis; axial hypotonia; increased deep tendon reflexes; no myoclonus; abnormal hand movements; normal plantar reflexes; MRI brain cerebellar atrophy; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin; normal vision; no strabismus; scoliosis or kyphoscoliosis; no dysphagia Inheritance Familial, autosomal recessive Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license No license selected 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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