Global Variome shared LOVD

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Phenotype #0000337087 Individual ID 00447895 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite LAMSHF Phenotype details hemihypertrophy; weight 75th-90th, height 25th-50th, OFC 25th; developmental delay/intellectual disability; moderate-severe speech delay; pervasive developmental delay, self injury; no hypotonia; no seizures; clumsiness; left facial drooping; no ophthalmologic features; dysmorphic features, flat occiput, frontal bossing, crumpled ear lobule, broad/low nasal bridge, upturned nose with bulbous tip, accentuated, prominent philtral ridges, prominent/full lips; flat feet; scapular winging; heart murmur; shawl scrotum; cryptorchidism; hepatomegaly Inheritance Isolated (sporadic) Age/Examination 2y6m (2 years, 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 2024-01-31 22:02:27 +01:00 (CET) Date last edited N/A

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