Moderate short stature, facial anomalies with or without genital malformations

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Kabuki syndrome and differential diagnosis [29 genes]

Ref.: S-202211868

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RASopathies – Noonan syndrome and differential diagnosis [64 genes]

Ref.: S-202314103

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Smith-Lemli-Opitz syndrome and differential diagnosis [36 genes]

Ref.: S-202314102