SNIBFIS
MCID: SNJ003
MIFTS: 22
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Snijders Blok-Fisher Syndrome (SNIBFIS)
Categories:
Ear diseases, Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Snijders Blok-Fisher Syndrome:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
variable severity de novo mutation (in most patients) HPO:31Classifications: |
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 05-Mar-2021)
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 and olfactory bulb, 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 : 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. |
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Human phenotypes related to Snijders Blok-Fisher Syndrome:31 (show all 19)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618604 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Snijders Blok-Fisher Syndrome:40
Brain,
Olfactory Bulb
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Articles related to Snijders Blok-Fisher Syndrome:
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ClinVar genetic disease variations for Snijders Blok-Fisher Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Snijders Blok-Fisher Syndrome:73
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Search
GEO
for disease gene expression data for Snijders Blok-Fisher Syndrome.
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