NTR: ZTTK syndrome or Zhu-Tokita-Takenouchi-Kim syndrome

[MonikaTomczuk]

Hi, I need ZTTK syndrome for MGI as we have a mouse modeling this syndrome in https://pubmed.ncbi.nlm.nih.gov/38290089/.

Label: Zhu-Tokita-Takenouchi-Kim syndrome OR ZTTK syndrome Definition: A severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability, with dysmorphic facial features, hypotonia, poor feeding, poor overall growth, eye or visual abnormalities, musculoskeletal abnormalties and sometimes congenital heart or urogenital defects that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. Definition ref: https://pubmed.ncbi.nlm.nih.gov/27545680/, https://pubmed.ncbi.nlm.nih.gov/34521999/
Definition on Orphanet is: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations (including abnormal gyration patterns, ventriculomegaly, white matter abnormalities, hypoplasia of the corpus callosum and cerebellar hemispheres), musculoskeletal abnormalities (including hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity), ocular involvement (strabismus, hypermetropia and cortical visual impairment) and hypotonia. Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations. DbXref: OMIM:617140 Dbxref: ORDO:500150 DbXref: UMLS_CUI:C4310696 DbXref: GARD:13489

Thank you, Monika Tomczuk Scientific Curator, MGI

[lschriml]

Thank you Monika !!

We will add this a 'syndrome'. Noting: including OMIM and GARD synonyms.