Global Variome shared LOVD

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Phenotype #0000267864 Individual ID 00372550 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details severe developmental delay/intellectual disability; Absences, myoclonic jerks; Limb hypertonia, spastic tetraparesis; normal vision, normal hearing; MRI brain widely open opercula of Sylvian fissures, prominent cisterna magna,pachygyria of posterior parietal lobes; no microcephaly; Low columella, bulbous nasal tip; short philtrum; Wide mouth, full lips; Widely spaced teeth; Mild micrognathia; synophrys, hypertrichosis; Long palpebral fissures; no mesomelic dysplasia; Contracture of knees and wrists; Post axial polydactyly with syndactyly of left foot, severe bilateral hind foot varus,short calcaneum.; Scoliosis treated surgical rods; Coxa valga; no horseshoe kidney; Constipation, gastrostomy fed; failure to thrive; Vesicoureteral reflux, weight at 9th centile Inheritance Isolated (sporadic) Age/Examination 21y (21 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 2021-05-09 14:59:48 +02:00 (CEST) Date last edited N/A

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