Intellectual Disability, Birk-barel Type

Description

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

Clinical Features

Top most frequent phenotypes and symptoms related to Intellectual Disability, Birk-barel Type

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape
  • Muscular hypotonia
  • Cleft palate
  • Flexion contracture

And another 29 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available there are 1 families with INTELLECTUAL DISABILITY, BIRK-BAREL TYPE in Europe.
No data available about the known clinical features onset.

Alternative names

Intellectual Disability, Birk-barel Type Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome, birk-barel mental retardation dysmorphism syndrome, mental retardation with hypotonia and facial dysmorphism.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Intellectual Disability, Birk-barel Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

BCS1L, RPS6KA3, SACS, BIN1, SCN1A, SCN8A, SDCCAG8, SGCA, SGSH, ST3GAL3, SLC16A2, SLC20A2, SLC25A12, SLC25A13, SLC25A15, SLC2A1, SLC2A2, BRCA2, SLC4A4, SLC5A2 , (...)

View the complete list with 367 more genes
Specificity
1 %
Genes
100 %
KCNK9.

By Fulgent Genetics Fulgent Genetics (United States).

KCNK9
Specificity
100 %
Genes
100 %
BIRK-BAREL SYNDROME (MATERNALLY INHERITED MENTAL RETARDATION).

By Laboratorio de Genetica Clinica SL (Spain).

KCNK9
Specificity
100 %
Genes
100 %
Birk-Barel Mental Retardation Dysmorphism Syndrome , Sequencing KCNK9 Gene.

By Reference Laboratory Genetics (Spain).

KCNK9
Specificity
100 %
Genes
100 %
Birk-Barel Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).

KCNK9
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT; SPG17 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS; PLACK EPILEPSY, IDIOPATHIC GENERALIZED; EIG EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS

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