Kohlschutter-Tonz syndrome

Term ID

DOID:0111668

Synonyms

• amelocerebrohypohidrotic syndrome
• epilepsy and yellow teeth
• epilepsy dementia amelogenesis imperfecta
• epilepsy-dementia-amelogenesis imperfecta syndrome
• Kohlschutter's syndrome
• KTZS

Definition

A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3. (2)

References

• GARD:3128
• MESH:C537213
• OMIM:226750
• ORDO:1946
• SNOMEDCT_US_2023_03_01:109478007
• UMLS_CUI:C0406740

Ontology

Human Disease   ( DOID:0111668 )