Zttk Syndrome; Zttks

Description

ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Zttk Syndrome; Zttks

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Strabismus
And another 67 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Zttk Syndrome; Zttks Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, ADSL, TUBB3, POLG, MECP2, GAMT, STXBP1, TUBA1A, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
100 %

Alternate names

Zttk Syndrome; Zttks Is also known as zhu-tokita-takenouchi-kim syndrome, zttk multiple congenital anomalies-mental retardation syndrome;.



Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more

Other rare diseases that you may find interesting

THIOPURINES, POOR METABOLISM OF, 2; THPM2