Global Variome shared LOVD

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

Phenotype #0000254898 Individual ID 00359625 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 38w, weight 2960g (23rd centile); neonatal hypotonia, temperature instability, hypoglycemia, torticollis; weight 13.05kg 22m (82nd centile), length 87.6cm 18m (98th centile), OFC 48.2cm 18m (73rd centile); moderate hypotonia; mild intellectual disability; strabismus; normal hearing; episodes of eye rolling and head movement, no confirmed seizures; MRI-brain bilateral linear T2, flair hyperintensities central segmental tract pons; medial flare eyebrows; telecanthus, lateral extension to palpebral fissures, epicanthal folds with long eyelashes; small narrownose with narrow alae nasi; normal midface; ankyloglossia (underwent frenotomy), retrognathia, narrow tented lip; low set and fleshy ears; torticollis ; integumentary papules on chin Inheritance Isolated (sporadic) Age/Examination 22m Age/Diagnosis - Age/Onset 6m 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 2021-04-02 17:28:47 +02:00 (CEST) Date last edited N/A

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