congenital nervous system disorder spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4937 https://www.malacards.org/card/spondyloepiphyseal_dysplasia_sensorineural_hearing_loss_impaired_intellectual_development_and_leber_congenital_amaurosis https://www.malacards.org/card/spondyloepiphyseal_dysplasia_sensorineural_hearing_loss_intellectual_developmental_disorder_and_leber_congenital_amaurosis MONDO:0031007 SHILCA OMIM:619260 UMLS:C5543257 GARD:0018025 MEDGEN:1780157 DOID:0112290 Orphanet:611207 SHILCA syndrome NMNAT1-related retinopathy