March 2021: New Orphanet summarises updates


Nicolaides-Baraitser syndrome
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Williams syndrome
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Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
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Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
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Branchio-oculo-facial syndrome
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Lamb-Shaffer syndrome
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Microcephalic primordial dwarfism due to RTTN deficiency
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Roifman syndrome
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Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
The summary has just been updated on Orphanet (ORPHA:352577) – March 2021 and revised by Dr Irene VALENZUELA for ERN ITHACA .
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Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
The summary has just been updated on Orphanet (ORPHA:500150) – February 2021 and revised by Dr J.M.T. [Jos] DRAAISMA for ERN ITHACA .
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Meckel syndrome
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