Global Variome shared LOVD

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Phenotype #0000337094 Individual ID 00447902 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite LAMSHF Phenotype details weight 49th, height 53rd, OFC −1 SD; mild intellectual disability, Peabody Picture Vocabulary Test receptive score 65 (−2.3 SD); nonverbal, expressive speech disorder; attention deficit-hyperactivity disorder; hypotonia; no seizures; Chiari I malformation; speech dyspraxia; moderate-severe bilateral sensorineural hearing loss; no ophthalmologic features; dysmorphic features, mild hair upsweep, protruding and large ears, small nares and alae, downturned upper lip, straight lower lip, malpositioned teeth; single right palmar crease; prominent fingertip pads; short second toes; scoliosis/kyphosis; prominent sternum; no heart defects; no genital abnormalities; chronic diarrhea; low-set nipples Inheritance Isolated (sporadic) Age/Examination 7y (7 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 2024-01-31 22:02:27 +01:00 (CET) Date last edited N/A

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