ZNF148 gene related symptoms and diseases

All the information presented here about the ZNF148 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 ZNF148 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Pointed chin Very Common - Between 80% and 100% cases
Hypermetropia Very Common - Between 80% and 100% cases
Poor speech Very Common - Between 80% and 100% cases
Talipes Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ZNF148 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Smooth philtrum
  • Renal cyst
  • Triangular face
  • Growth hormone deficiency
  • Mitral valve prolapse
  • Coarctation of aorta
  • Short palpebral fissure
  • Renal dysplasia

And 42 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ZNF148 gene

Here you will find a list of rare diseases related to the ZNF148. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF


Description

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Most common symptoms of GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

SOURCES: OMIM


Potential gene panels for ZNF148 gene

ZNF148 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ZNF148 gene.

More info about this panel


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