Global Variome shared LOVD

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Phenotype #0000337316 Individual ID 00448124 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details no tetraparesis; no epilepsy; axial hypotonia; increased deep tendon reflexes; no myoclonus; no tremor hands/jaws; normal hand movements; normal plantar reflexes; microcephaly, no coarse face, no high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, no yellowish skin, no keratosis pilaris; no strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; no tapered fingers; no pes planus; no pes cavus; no dysphagia Inheritance Familial, autosomal recessive Age/Examination 3y6m (3 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 2024-02-15 19:21:32 +01:00 (CET) Date last edited N/A

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