acrocallosal syndrome

Term ID

DOID:9250

Synonyms

• ACLS
• SCHINZEL ACROCALLOSAL SYNDROME
• Schinzel syndrome 1

Definition

A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. http://en.wikipedia.org/wiki/Acrocallosal_syndrome

References

• GARD:5721
• MESH:D055673
• NCI:C84531
• OMIM:200990
• SNOMEDCT_US_2023_03_01:715951007
• UMLS_CUI:C0796147

Ontology

Human Disease   ( DOID:9250 )