Disease #01067 (SDSX (Stocco dos Santos X-linked mental retardation syndrome (SDSX)), OMIM:300434)

Official abbreviation SDSX
Name Stocco dos Santos X-linked mental retardation syndrome (SDSX)
OMIM ID 300434
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene SHROOM4
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Individuals

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00376165 181927 - - M no Germany - - 0 - - SDSX Prenatal diagnostics, in ultrasound suspicion of Noonan syndrome, or other syndome, karyotype 46, XY SHROOM4 SHROOM4 1 1 Andreas Laner
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