Temtamy syndrome
Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities
Press Enter · cited answer in seconds
0 sources
Temtamy syndrome
Summary
Temtamy syndrome is a developmental defect during embryogenesis[1]. It is known by 10 alternative names across languages and contexts.[2]
Key Facts
- Temtamy syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- Temtamy syndrome's instance of is recorded as syndrome[4].
- Temtamy syndrome's instance of is recorded as rare disease[5].
- Temtamy syndrome's instance of is recorded as class of disease[6].
- Temtamy syndrome is a type of genetic syndromic intellectual disability[7].
- Temtamy syndrome is a type of genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature[8].
- Temtamy syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[9].
- Temtamy syndrome is a type of syndrome[10].
- Temtamy syndrome is a type of autosomal recessive disease[11].
- Temtamy syndrome's NCI Thesaurus ID is recorded as C148371[12].
- Temtamy syndrome's genetic association is recorded as C12orf57[13].
- Temtamy syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1777[14].
- Temtamy syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111621[15].
- Temtamy syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111621[16].
Why It Matters
Temtamy syndrome is known by 10 alternative names across languages and contexts.[2]