Snijders Blok-Fisher Syndrome (SNIBFIS)

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OMIM 56 618604 KEGG 36 H02387 MeSH 43 D065886

MedGen 41 CN262354 EFO 17 EFO_0010634

OMIM : ⁵⁶ Snijders Blok-Fisher syndrome (SNIBFIS) is a neurodevelopmental disorder characterized by global developmental delay, hypotonia, variable impaired intellectual development, and specifically impaired speech and language acquisition. Patients achieve independent ambulation and most have mild to moderately impaired cognition with autistic features, although a few may develop seizures and have a more severe phenotype. Dysmorphic features include abnormal, cupped, or prominent ears and ocular anomalies. Mutations usually occur de novo, although 1 family with autosomal dominant inheritance has been reported (summary by Snijders Blok et al., 2019). (618604)

MalaCards based summary : Snijders Blok-Fisher Syndrome, is also known as snibfis. An important gene associated with Snijders Blok-Fisher Syndrome is POU3F3 (POU Class 3 Homeobox 3). Affiliated tissues include brain.

KEGG : ³⁶ Snijders Blok-Fisher syndrome (SNIBFIS) is a neurodevelopmental disorder with a broad phenotypic spectrum that includes intellectual disability and/or developmental delay, speech and language problems, hypotonia, and autism spectrum disorder. It has been reported that de novo mutations in POU3F3 cause this disease. POU3F3 is a well-known transcription factor involved in the development of the central nervous system.

UniProtKB/Swiss-Prot : ⁷³ Snijders Blok-Fisher syndrome: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, intellectual disability, autistic features, impairments in speech and language skills, and dysmorphic features including abnormal, cupped, or prominent ears and ocular anomalies.

Clinical features from OMIM:

618604

Search Clinical Trials , NIH Clinical Center for Snijders Blok-Fisher Syndrome

Search GEO for disease gene expression data for Snijders Blok-Fisher Syndrome.