Snijders Blok-Fisher Syndrome (SNIBFIS)

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OMIM® 57 618604 KEGG 36 H02387 MeSH 44 D065886

MedGen 41 C5231424 CN262354 SNOMED-CT via HPO 68 128613002 162294008 204043002 204878001 224958001 228156007 229721007 246545002 247578003 263681008 275295002 275478007 29164008 313307000 43105007 53827007 53888004 62415009 62718007 84757009 8652009 91138005 91175000 more EFO 17 EFO_0010634

OMIM® : ⁵⁷ 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) (Updated 20-May-2021)

MalaCards based summary : Snijders Blok-Fisher Syndrome, also known as snibfis, is related to alacrima, achalasia, and mental retardation syndrome and epilepsy. An important gene associated with Snijders Blok-Fisher Syndrome is POU3F3 (POU Class 3 Homeobox 3). Affiliated tissues include olfactory bulb and brain, and related phenotypes are intellectual disability and sleep disturbance

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 : ⁷² 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 (Updated 20-May-2021)

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

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