Snijders Blok-Fisher Syndrome (SNIBFIS)

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OMIM 56 618604

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.

Clinical features from OMIM:

618604

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