OBO ID: DOID:0080140 |
Term Name: | multiple congenital anomalies-hypotonia-seizures syndrome 3 | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. (2) | ||
References: | |||
Ontology: | Human Disease ( DOID:0080140 ) |
OTHER multiple congenital anomalies-hypotonia-seizures syndrome 3 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.