TTC5

tetratricopeptide repeat domain 5
OMIM: 619014, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green TTC5 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244
  • Intellectual disability
  • microcephaly