has material basis in germline mutation in MAB21L2 colobomatous microphthalmia-rhizomelic dysplasia syndrome https://github.com/monarch-initiative/mondo/issues/6751 https://www.malacards.org/card/microphthalmia_coloboma_and_skeletal_dysplasia_syndrome microphthalmia, syndromic type 14 MEDGEN:862977 microphthalmia, syndromic 14 microphthalmia-coloboma-rhizomelic skeletal dysplasia MCSKS MCOPS14 Orphanet:424099 UMLS:C4014540 GARD:0017707 Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. DOID:0111802 OMIM:615877 MONDO:0014380 syndromic microphthalmia skeletal dysplasia