Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000243398 Individual ID 00324902 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 38w, weight 2300g (-2.0SD),, length 40cm (-2.5SD), OFC 33.3cm (-1.0SD); weight 9.1kg (-1.4SD), length 74cm (-2.4SD), 5.5m-OFC 41cm (-1.35SD); intellectual disability; motor developmental delay; not walking; no speech; muscular hypotonia; delayed myelinisation of corpus callosum; not walking; seizures, absences, no medication; strabism; no visual impairment; no abnormal respirations; no hearing impairment; epicanthic folds; thin upper lip; frontal bossing; no open mouth appearance; no deep set eyes; upslanting palpebral fissures; scaphocephaly, open cranial sutures; no helix anomalies; no broad nasal bridge; neonatal feeding difficulties; short toes, proximal implant dig III-IV left foot; gastroesophageal reflux; no heart anomalies Inheritance Isolated (sporadic) Age/Examination 1y6m (1 year, 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 2020-12-24 16:46:49 +01:00 (CET) Date last edited N/A

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