partial trisomy/tetrasomy of the short arm of chromosome 5 tetrasomy 5p https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/tetrasomy_5p UMLS:C0795813 Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia). GARD:0018792 tetrasomy type 5p MEDGEN:1638801 Isochromosome 5p MONDO:0018028 Orphanet:3309 SCTID:766755003 obsolete chromosomal anomaly with cataract