Zttk Syndrome; Zttks
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).
Genes related to Zttk Syndrome; Zttks
Clinical FeaturesTop most frequent phenotypes and symptoms related to Zttk Syndrome; Zttks
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Growth delay
Incidence and onset information— Not enough data available about incidence and published cases.
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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
Zttk Syndrome; Zttks Is also known as zhu-tokita-takenouchi-kim syndrome, zttk multiple congenital anomalies-mental retardation syndrome;.
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