| Preferred name | Synonyms/alternate names | OMIM disease number | Gene (HGNC symbol) | Inheritance | Key defining features (1 line) | Key references (with DOI/URL and year) |
|---|---|---|---|---|---|---|
| Lichtenstein-Knorr syndrome | Spinocerebellar ataxia, autosomal recessive 20; SCAR20; SNX14-related cerebellar ataxia and intellectual disability syndrome; distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome (pqac-00000004, pqac-00000002, pqac-00000003, pqac-00000000) | OMIM 616354 (pqac-00000003, pqac-00000000, pqac-00000005) | SNX14 (HGNC symbol: SNX14) (pqac-00000004, pqac-00000005) | Autosomal recessive (pqac-00000004, pqac-00000002, pqac-00000005) | Early-onset progressive cerebellar ataxia/atrophy with severe intellectual disability or developmental delay, absent or markedly impaired speech, relative macrocephaly, coarse facial features, and frequent additional findings such as hypotonia, hearing loss, skeletal anomalies, autism, or seizures (pqac-00000004, pqac-00000002, pqac-00000003, pqac-00000000, pqac-00000005) | Thomas et al., 2014, AJHG, doi:10.1016/j.ajhg.2014.10.007, https://doi.org/10.1016/j.ajhg.2015.05.010 (reported in retrieved source) (pqac-00000004); Bryant et al., 2018, Hum Mol Genet, doi:10.1093/hmg/ddy101, https://doi.org/10.1093/hmg/ddy101 (pqac-00000002); Maia et al., 2020, Front Genet, doi:10.3389/fgene.2020.01038, https://doi.org/10.3389/fgene.2020.01038 (pqac-00000003); Levchenko et al., 2023, Front Genet, doi:10.3389/fgene.2023.1197681, https://doi.org/10.3389/fgene.2023.1197681 (pqac-00000000); Shao et al., 2024, Front Genet, doi:10.3389/fgene.2024.1379366, https://doi.org/10.3389/fgene.2024.1379366 (pqac-00000005) |
| MONDO / MeSH / ICD identifiers | not found in retrieved sources (pqac-00000000, pqac-00000004) | not found in retrieved sources (pqac-00000000, pqac-00000004) | not applicable | not applicable | Cross-ontology identifiers beyond OMIM were not reported in the retrieved evidence set (pqac-00000000, pqac-00000004) | Evidence base searched here did not yield MONDO, MeSH, ICD-10, or ICD-11 identifiers in retrieved sources (pqac-00000000, pqac-00000004) |


*Table: This table summarizes the main disease names, aliases, OMIM identifier, causal gene, inheritance, and defining clinical features for Lichtenstein-Knorr syndrome / SNX14-related SCAR20. It is useful as a compact reference for disease knowledge-base normalization and synonym mapping.*