multiple congenital anomalies/dysmorphic syndrome without intellectual disability 49,XYYYY syndrome https://www.malacards.org/card/49xyyyy_syndrome SCTID:734028007 Orphanet:99330 UMLS:C4518342 MONDO:0020470 MEDGEN:1384259 49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults. GARD:0019679 chromosome Y disorder pentasomy