TBC1D7:Ensemblv115

TBC1 domain family member 7
OMIM: 612655, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green TBC1D7 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000