BPTF gene related symptoms and diseases

All the information presented here about the BPTF gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BPTF gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Narrow mouth Very Common - Between 80% and 100% cases
Broad hallux Very Common - Between 80% and 100% cases
Overlapping toe Very Common - Between 80% and 100% cases
Sandal gap Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with BPTF gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Postnatal microcephaly
  • Short palpebral fissure
  • Underdeveloped nasal alae
  • Prominent nose
  • Broad nasal tip
  • Small hand
  • Hypermetropia
  • Abnormality of the cerebral white matter

And 19 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BPTF gene

Here you will find a list of rare diseases related to the BPTF. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL


Description

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Most common symptoms of NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

SOURCES: OMIM


Potential gene panels for BPTF gene

BPTF Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BPTF gene.

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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