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Browse result for Acrocallosal syndrome
※ introduction Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. The syndrome was first described by Albert Schinzel in 1979. Mutations in KIF7 are causative for ACLS, and mutations in GLI3 are associated with a similar syndrome.
Reference
Wiki: Acrocallosal syndrome
Reference
Wiki: Acrocallosal syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD07228 | Q2M1P5 | 37465 | KIF7 | Kinesin-like protein KIF7 | Homo sapiens |
