Temtamy syndrome

Also Known As:

Craniofacial Dysmorphism With Ocular Coloboma, Absent Corpus Callosum, And Aortic Dilatation; Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation; Dysmorphism, corpus callosum agenesis and colobomas

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Agenesis of Corpus Callosum
2.	Seizures (Absence Seizure)
3.	Intellectual Disability (Idiocy)

Experts

1.	Alfiya, F: 1 article (01/2022)
2.	Banerjee, Moinak: 1 article (01/2022)
3.	Chandrasekharan, Soumya V: 1 article (01/2022)
4.	Jose, Manna: 1 article (01/2022)
5.	Menon, Ramshekhar N: 1 article (01/2022)
6.	Radhakrishnan, Ashalatha: 1 article (01/2022)
7.	Sundaram, Soumya: 1 article (01/2022)
8.	Thomas, Bejoy: 1 article (01/2022)
9.	Urulangodi, Madhusoodanan: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Temtamy syndrome:

1.	Terminator Codon (Termination Codon)IBA 01/01/2022 - "Open reading frame variants which lack stop codons such as C12orf57 variants are known to cause Temtamy syndrome, an extremely rare disorder characterized by intellectual disability, seizures, facial dysmorphism and agenesis of corpus callosum. "