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amelocerebrohypohidrotic syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Explore Associated Targets
Mondo Description Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.
Uniprot Description An autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life.
Mondo Term and Equivalent IDs
MONDO:0009185:  amelocerebrohypohidrotic syndrome
DOID:0111668: 
GARD:0003128: 
MESH:C537213: 
Orphanet:1946: 
SCTID:109478007: 
UMLS:C0406740: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)