Global Variome shared LOVD

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

Phenotype #0000243393 Individual ID 00324897 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 38w, weight 2745g (-1.3SD), length 47cm (-1.8SD), OFC 35cm (+0.1SD); weight 7.1kg (-2.8SD), length 73.5cm (-1.4SD), OFC 46.5cm (-0.7SD); intellectual disability; motor developmental delay; not walking; impaired speech development; muscular hypotonia; no strabism; no visual impairment; no myopia/hyperopia; no hearing impairment; epicanthic folds; no thin upper lip; frontal bossing; no open mouth appearance; no deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; neonatal feeding difficulties Inheritance Isolated (sporadic) Age/Examination 13m 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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