distal monosomy 7q36 https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/distal_monosomy_7q36 distal deletion 7q36 UMLS:C4706504 MEDGEN:1642679 SCTID:763529005 GARD:0018731 Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. Orphanet:1636 telomeric deletion 7q36 monosomy 7qter MONDO:0015580 distal monosomy type 7q36 partial deletion of the long arm of chromosome 7 obsolete_distal monosomy 7q36