Global Variome shared LOVD

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Phenotype #0000319137 Individual ID 00428225 Associated disease ? Diagnosis/Initial fetal akinesia Diagnosis/Definite CLIFAHDD Phenotype details polyhydramnios, insulin-dependent diabetes mellitus; congenital contractures limbs/face, hypotonia, developmental delay; bilateral adducted thumbs, contracted third fingers (improved with age); round face, mild hypertelorism, short palpebral fissures, microstomia; severe global developmental delay; 3y8m-no unsupported sitting, crawling, standing or walking, no speech, reduced comprehension; oromandibular dystonia; birth 39w+2, Apgar 9/9/9 but problems with respiratory adaptation (tachydyspnoeia, inspiratory stridor); laryngomalacia as newborn, 2 times laser treatment; now all measurements low, especially short stature; 3y8m-weight −2.3 SD, length −3.9 SD, OFC −2.5 SD Inheritance Isolated (sporadic) Age/Examination 8m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-12-24 16:09:43 +01:00 (CET) Date last edited N/A

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