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.
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
Search interest in BPTF
Potential gene panels for BPTF gene
BPTF Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BPTF gene.
More info about this panelTempus xO assay Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NDUFS1 ADCY5 CTC1 ALG8 LYN KIF5C MMAA