disease arises from structure disease arises from alteration in structure 14q22-q23 (Human) Frias syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/frias_syndrome monosomy 14q22q23 monosomy 14q22-q23 MESH:C535639 A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. Frias syndrome MONDO:0012324 UMLS:C1864825 Del(14)(q22q23) Orphanet:264200 14q22-q23 microdeletion syndrome 14q22q23 microdeletion syndrome Orphanet:2055 OMIM:609640 GARD:0002384 MEDGEN:400621 multiple congenital anomalies/dysmorphic syndrome without intellectual disability partial deletion of the long arm of chromosome 14