| Entity/name | Key synonyms/description | Causal gene | Inheritance | Hallmark phenotypes | Key citations (PMID if available; otherwise context IDs) | URL | Publication year/date |
|---|---|---|---|---|---|---|---|
| Temtamy syndrome (MIM 218340) | C12orf57-related Temtamy syndrome; Temtamy syndrome of corpus callosum and ocular abnormalities; autosomal recessive syndromic developmental encephalopathy/intellectual disability with callosal and ocular anomalies | **C12orf57** | Autosomal recessive; recurrent founder-like start-codon variant reported in multiple Arab families; compound heterozygous cases also described (pqac-00000019, pqac-00000031, pqac-00000039) | Global developmental delay/intellectual disability, epilepsy/seizures (often early-onset, sometimes refractory), corpus callosum hypoplasia/agenesis, autistic features, hypotonia, ocular anomalies including optic/chorioretinal coloboma or microphthalmia, dysmorphic facial features (pqac-00000019, pqac-00000020, pqac-00000031, pqac-00000036) | Akizu et al., 2013, *Am J Hum Genet* (PMID not available in provided texts; pqac-00000019, pqac-00000020); Platzer et al., 2014, *Am J Med Genet A* (pqac-00000031, pqac-00000035); Wang et al., 2020, *Exp Ther Med* (pqac-00000000, pqac-00000001, pqac-00000002, pqac-00000036) | https://doi.org/10.1016/j.ajhg.2013.02.004; https://doi.org/10.1002/ajmg.a.36592; https://doi.org/10.3892/etm.2019.8183 | 2013-03; 2014-08; 2020-11 |
| Temtamy preaxial brachydactyly syndrome (TPBS; MIM 605282) | Temtamy preaxial brachydactyly syndrome; autosomal recessive syndromic brachydactyly distinct from C12orf57-related Temtamy syndrome; characterized by bilateral symmetric preaxial digital anomalies | **CHSY1** | Autosomal recessive, typically in consanguineous families (pqac-00000008, pqac-00000011, pqac-00000013) | Bilateral symmetric preaxial brachydactyly, hyperphalangism/symphalangism, duplicated phalanges or metatarsals, short/deviated thumbs and halluces, syndactyly, facial dysmorphism, dental anomalies, sensorineural hearing loss, growth retardation/short stature; additional skeletal anomalies such as radio-ulnar synostosis and carpal/tarsal fusions (pqac-00000008, pqac-00000009, pqac-00000011, pqac-00000012, pqac-00000013) | Li et al., 2010, *Am J Hum Genet* (PMID not available in provided texts; pqac-00000008, pqac-00000009, pqac-00000011, pqac-00000013); Tian et al., 2010, *Am J Hum Genet* (pqac-00000014); Sher & Naeem, 2014, *Eur J Med Genet* (pqac-00000010, pqac-00000012) | https://doi.org/10.1016/j.ajhg.2010.10.003; https://doi.org/10.1016/j.ajhg.2010.11.005; https://doi.org/10.1016/j.ejmg.2013.11.001 | 2010-12; 2010-12; 2014-01 |


*Table: This table distinguishes the two different disease entities that are often conflated under the name “Temtamy syndrome.” It contrasts their genes, inheritance, phenotypes, and supporting literature so the final report can use the correct disease concept.*