TTC5

tetratricopeptide repeat domain 5
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TTC5 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244
  • Central hypotonia
  • Global developmental delay
  • Intellectual disability
  • Abnormality of nervous system morphology
  • Microcephaly
  • Abnormality of the face
  • Behavioral abnormality
  • Abnormality of the genitourinary system

Green TTC5 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

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

Green TTC5 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244
  • Central hypotonia
  • Global developmental delay
  • Intellectual disability
  • Abnormality of nervous system morphology
  • Microcephaly
  • Abnormality of the face
  • Behavioral abnormality
  • Abnormality of the genitourinary system